UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs3885683
gnomAD v2:
11-83455707-T-C
gnomAD v3:
11-83744664-T-C
gnomAD v4:
11-83744664-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.83744664T>C , CM000673.2:g.83744664T>C | GRCh38 |
| NC_000011.9:g.83455707T>C , CM000673.1:g.83455707T>C | GRCh37 |
| NC_000011.8:g.83133355T>C | NCBI36 |
| NG_021375.1:g.1887608A>G | |
| NG_021375.2:g.1888872A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527088.2:c.1417+42026A>G | ENSP00000435809.2:n.1417+42026A>G | |
| ENST00000527466.2:c.1384+42026A>G | ENSP00000500169.2:n.1384+42026A>G | |
| ENST00000706203.1:c.1327+42026A>G | ENSP00000516281.1:n.1327+42026A>G | |
| ENST00000706204.1:c.1471+42026A>G | ENSP00000516282.1:n.1471+42026A>G | |
| ENST00000706207.1:n.1844-4720A>G | ||
| ENST00000706226.1:c.1861+42026A>G | ENSP00000516284.1:n.1861+42026A>G | |
| ENST00000706232.1:c.1411+42026A>G | ENSP00000516287.1:n.1411+42026A>G | |
| ENST00000706233.1:c.1858+42026A>G | ENSP00000516288.1:n.1858+42026A>G | |
| ENST00000706243.1:c.1627+42026A>G | ENSP00000516291.1:n.1627+42026A>G | |
| ENST00000706266.1:c.1414+42026A>G | ENSP00000516312.1:n.1414+42026A>G | |
| ENST00000706267.1:c.1570+42026A>G | ENSP00000516313.1:n.1570+42026A>G | |
| ENST00000330014.11:c.1344+42026A>G | ||
| ENST00000376104.7:c.1825+42026A>G MANE Select | ENSP00000365272.2:n.1825+42026A>G | |
| ENST00000648622.1:c.1570+42026A>G | ENSP00000497475.1:n.1570+42026A>G | |
| ENST00000650630.1:c.1936+42026A>G | ENSP00000497771.1:n.1936+42026A>G | |
| ENST00000280241.12:c.1627+42026A>G | ENSP00000280241.8:n.1627+42026A>G | |
| ENST00000330014.10:c.1327+42026A>G | ENSP00000381353.3:n.1327+42026A>G | |
| ENST00000376104.6:c.1825+42026A>G | ENSP00000365272.2:n.1825+42026A>G | |
| ENST00000398309.6:c.1510+42026A>G | ENSP00000381355.2:n.1510+42026A>G | |
| ENST00000418306.6:c.1201+42026A>G | ENSP00000402275.2:n.1201+42026A>G | |
| ENST00000524982.5:c.1510+42026A>G | ENSP00000432894.1:n.1510+42026A>G | |
| ENST00000529111.5:n.1788+42026A>G | ||
| ENST00000531015.5:c.1411+42026A>G | ENSP00000433848.1:n.1411+42026A>G | |
| ENST00000532653.5:c.1510+42026A>G | ENSP00000435849.1:n.1510+42026A>G | |
| NM_001142699.1:c.1825+42026A>G | NP_001136171.1:n.1825+42026A>G | |
| NM_001142700.1:c.1201+42026A>G | NP_001136172.1:n.1201+42026A>G | |
| NM_001206769.1:c.1627+42026A>G | NP_001193698.1:n.1627+42026A>G | |
| NM_001300983.1:c.1510+42026A>G | NP_001287912.1:n.1510+42026A>G | |
| NM_001364.3:c.1510+42026A>G | NP_001355.2:n.1510+42026A>G | |
| XM_005273806.2:c.1570+42026A>G | XP_005273863.1:n.1570+42026A>G | |
| XM_005273810.3:c.1411+42026A>G | XP_005273867.1:n.1411+42026A>G | |
| XM_005273811.3:c.1411+42026A>G | XP_005273868.1:n.1411+42026A>G | |
| XM_006718438.1:c.1384+42026A>G | XP_006718501.1:n.1384+42026A>G | |
| XM_011544778.1:c.1975+42026A>G | XP_011543080.1:n.1975+42026A>G | |
| XM_011544779.1:c.1936+42026A>G | XP_011543081.1:n.1936+42026A>G | |
| XM_011544780.1:c.1975+42026A>G | XP_011543082.1:n.1975+42026A>G | |
| XM_011544781.1:c.1900+42026A>G | XP_011543083.1:n.1900+42026A>G | |
| XM_011544782.1:c.1573+42026A>G | XP_011543084.1:n.1573+42026A>G | |
| XM_011544783.1:c.1567+42026A>G | XP_011543085.1:n.1567+42026A>G | |
| XM_011544784.1:c.1507+42026A>G | XP_011543086.1:n.1507+42026A>G | |
| XM_011544785.1:c.1498+42026A>G | XP_011543087.1:n.1498+42026A>G | |
| XM_011544786.1:c.1975+42026A>G | XP_011543088.1:n.1975+42026A>G | |
| XM_011544787.1:c.1261+42026A>G | XP_011543089.1:n.1261+42026A>G | |
| XM_011544788.1:c.1255+42026A>G | XP_011543090.1:n.1255+42026A>G | |
| NM_001351274.1:c.1861+42026A>G | NP_001338203.1:n.1861+42026A>G | |
| NM_001351275.1:c.1858+42026A>G | NP_001338204.1:n.1858+42026A>G | |
| NM_001351276.1:c.1567+42026A>G | NP_001338205.1:n.1567+42026A>G | |
| XM_005273810.4:c.1411+42026A>G | XP_005273867.1:n.1411+42026A>G | |
| XM_005273811.4:c.1411+42026A>G | XP_005273868.1:n.1411+42026A>G | |
| XM_011544778.3:c.1975+42026A>G | XP_011543080.1:n.1975+42026A>G | |
| XM_011544780.3:c.1975+42026A>G | XP_011543082.1:n.1975+42026A>G | |
| XM_011544782.2:c.1573+42026A>G | XP_011543084.1:n.1573+42026A>G | |
| XM_011544788.2:c.1255+42026A>G | XP_011543090.1:n.1255+42026A>G | |
| XM_017017254.2:c.1975+42026A>G | XP_016872743.1:n.1975+42026A>G | |
| XM_017017255.2:c.1936+42026A>G | XP_016872744.1:n.1936+42026A>G | |
| XM_017017256.2:c.1936+42026A>G | XP_016872745.1:n.1936+42026A>G | |
| XM_017017257.2:c.1933+42026A>G | XP_016872746.1:n.1933+42026A>G | |
| XM_017017258.1:c.1813+42026A>G | XP_016872747.1:n.1813+42026A>G | |
| XM_017017261.2:c.1819+42026A>G | XP_016872750.1:n.1819+42026A>G | |
| XM_017017262.1:c.1627+42026A>G | XP_016872751.1:n.1627+42026A>G | |
| XM_017017263.1:c.1573+42026A>G | XP_016872752.1:n.1573+42026A>G | |
| XM_017017264.2:c.1570+42026A>G | XP_016872753.1:n.1570+42026A>G | |
| XM_017017265.2:c.1567+42026A>G | XP_016872754.1:n.1567+42026A>G | |
| XM_017017266.1:c.1627+42026A>G | XP_016872755.1:n.1627+42026A>G | |
| XM_017017267.1:c.1510+42026A>G | XP_016872756.1:n.1510+42026A>G | |
| XM_017017268.1:c.1507+42026A>G | XP_016872757.1:n.1507+42026A>G | |
| XM_017017269.1:c.1498+42026A>G | XP_016872758.1:n.1498+42026A>G | |
| XM_017017270.1:c.1573+42026A>G | XP_016872759.1:n.1573+42026A>G | |
| XM_017017271.2:c.1570+42026A>G | XP_016872760.1:n.1570+42026A>G | |
| XM_017017273.2:c.1471+42026A>G | XP_016872762.1:n.1471+42026A>G | |
| XM_017017274.1:c.1510+42026A>G | XP_016872763.1:n.1510+42026A>G | |
| XM_017017275.1:c.1471+42026A>G | XP_016872764.1:n.1471+42026A>G | |
| XM_017017276.1:c.1498+42026A>G | XP_016872765.1:n.1498+42026A>G | |
| XM_017017277.1:c.1384+42026A>G | XP_016872766.1:n.1384+42026A>G | |
| XM_017017278.1:c.1471+42026A>G | XP_016872767.1:n.1471+42026A>G | |
| XM_017017279.1:c.1417+42026A>G | XP_016872768.1:n.1417+42026A>G | |
| XM_017017280.2:c.1414+42026A>G | XP_016872769.1:n.1414+42026A>G | |
| XM_017017281.2:c.1414+42026A>G | XP_016872770.1:n.1414+42026A>G | |
| XM_017017283.1:c.1384+42026A>G | XP_016872772.1:n.1384+42026A>G | |
| XM_017017284.1:c.1261+42026A>G | XP_016872773.1:n.1261+42026A>G | |
| XM_017017285.1:c.1342+42026A>G | XP_016872774.1:n.1342+42026A>G | |
| XM_017017286.2:c.1129+42026A>G | XP_016872775.1:n.1129+42026A>G | |
| XM_017017287.1:c.112+42026A>G | XP_016872776.1:n.112+42026A>G | |
| XM_024448378.1:c.1861+42026A>G | XP_024304146.1:n.1861+42026A>G | |
| XM_024448379.1:c.1858+42026A>G | XP_024304147.1:n.1858+42026A>G | |
| NM_001142700.2:c.1201+42026A>G | NP_001136172.1:n.1201+42026A>G | |
| NM_001351274.2:c.1861+42026A>G | NP_001338203.1:n.1861+42026A>G | |
| NM_001351276.2:c.1567+42026A>G | NP_001338205.1:n.1567+42026A>G | |
| NM_001142699.3:c.1825+42026A>G MANE Select | NP_001136171.1:n.1825+42026A>G | |
| NM_001206769.2:c.1627+42026A>G | NP_001193698.1:n.1627+42026A>G | |
| NM_001351275.2:c.1858+42026A>G | NP_001338204.1:n.1858+42026A>G | |
| NM_001377966.1:c.1627+42026A>G | NP_001364895.1:n.1627+42026A>G | |
| NM_001377967.1:c.1627+42026A>G | NP_001364896.1:n.1627+42026A>G | |
| NM_001377968.1:c.1510+42026A>G | NP_001364897.1:n.1510+42026A>G | |
| NM_001377970.1:c.1471+42026A>G | NP_001364899.1:n.1471+42026A>G | |
| NM_001377971.1:c.1471+42026A>G | NP_001364900.1:n.1471+42026A>G | |
| NM_001377972.1:c.1411+42026A>G | NP_001364901.1:n.1411+42026A>G | |
| NM_001377973.1:c.1384+42026A>G | NP_001364902.1:n.1384+42026A>G | |
| NM_001377974.1:c.1255+42026A>G | NP_001364903.1:n.1255+42026A>G | |
| NM_001377975.1:c.1411+42026A>G | NP_001364904.1:n.1411+42026A>G | |
| NR_165353.1:n.1436+42026A>G |