Linked Data
ClinVar Variation Id:
465350
dbSNP Id:
rs764892330
ExAC:
4:1808017 G / T
gnomAD v2:
4-1808017-G-T
gnomAD v3:
4-1806290-G-T
gnomAD v4:
4-1806290-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1806290G>T , CM000666.2:g.1806290G>T | GRCh38 |
| NC_000004.11:g.1808017G>T , CM000666.1:g.1808017G>T | GRCh37 |
| NC_000004.10:g.1777815G>T | NCBI36 |
| NG_012632.1:g.17979G>T , LRG_1021:g.17979G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.1999G>T | ENSP00000339824.4:p.Ala667Ser | |
| ENST00000260795.8:c.*1049G>T | ENSP00000260795.3:n.*1049G>T | |
| ENST00000352904.6:c.1657G>T | ENSP00000231803.1:p.Ala553Ser | |
| ENST00000412135.7:c.1981G>T | ENSP00000412903.3:p.Ala661Ser | |
| ENST00000440486.8:c.1993G>T MANE Select | ENSP00000414914.2:p.Ala665Ser | |
| ENST00000481110.7:c.1962+117G>T | ENSP00000420533.2:n.1962+117G>T | |
| ENST00000260795.6:c.1993G>T | ENSP00000260795.2:p.Ala665Ser | |
| ENST00000340107.8:c.1999G>T | ENSP00000339824.4:p.Ala667Ser | |
| ENST00000352904.5:c.1657G>T | ENSP00000231803.1:p.Ala553Ser | |
| ENST00000412135.6:c.1657G>T | ENSP00000412903.2:p.Ala553Ser | |
| ENST00000440486.6:c.1993G>T | ENSP00000414914.2:p.Ala665Ser | |
| ENST00000481110.6:c.1962+117G>T | ENSP00000420533.2:n.1962+117G>T | |
| ENST00000613647.4:c.*1049G>T | ENSP00000479472.1:n.*1049G>T | |
| NM_000142.4:c.1993G>T , LRG_1021t1:c.1993G>T | NP_000133.1:p.Ala665Ser | |
| NM_001163213.1:c.1999G>T , LRG_1021t2:c.1999G>T | NP_001156685.1:p.Ala667Ser | |
| NM_022965.3:c.1657G>T | NP_075254.1:p.Ala553Ser | |
| XM_006713868.1:c.2005G>T | XP_006713931.1:p.Ala669Ser | |
| XM_006713869.1:c.2005G>T | XP_006713932.1:p.Ala669Ser | |
| XM_006713870.1:c.2002G>T | XP_006713933.1:p.Ala668Ser | |
| XM_006713871.1:c.1999G>T | XP_006713934.1:p.Ala667Ser | |
| XM_006713872.1:c.1996G>T | XP_006713935.1:p.Ala666Ser | |
| XM_006713873.1:c.1993G>T | XP_006713936.1:p.Ala665Ser | |
| XM_011513420.1:c.1999G>T | XP_011511722.1:p.Ala667Ser | |
| XM_011513422.1:c.1996G>T | XP_011511724.1:p.Ala666Ser | |
| NM_001354809.1:c.1996G>T | NP_001341738.1:p.Ala666Ser | |
| NM_001354810.1:c.1962+117G>T | NP_001341739.1:n.1962+117G>T | |
| NR_148971.1:n.2400G>T | ||
| NM_001354809.2:c.1996G>T | NP_001341738.1:p.Ala666Ser | |
| NM_001354810.2:c.1962+117G>T | NP_001341739.1:n.1962+117G>T | |
| NR_148971.2:n.2419G>T | ||
| NM_000142.5:c.1993G>T MANE Select | NP_000133.1:p.Ala665Ser | |
| NM_001163213.2:c.1999G>T | NP_001156685.1:p.Ala667Ser | |
| NM_022965.4:c.1657G>T | NP_075254.1:p.Ala553Ser |