Linked Data
ClinVar Variation Id:
235442
dbSNP Id:
rs139649711
ExAC:
7:114294072 C / T
gnomAD v2:
7-114294072-C-T
gnomAD v3:
7-114654017-C-T
gnomAD v4:
7-114654017-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114654017C>T , CM000669.2:g.114654017C>T | GRCh38 |
| NC_000007.13:g.114294072C>T , CM000669.1:g.114294072C>T | GRCh37 |
| NC_000007.12:g.114081308C>T | NCBI36 |
| NG_007491.2:g.572708C>T | |
| NG_007491.3:g.572708C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403559.9:c.1317+8C>T | ENSP00000385069.4:n.1317+8C>T | |
| ENST00000703612.1:c.1257+8C>T | ENSP00000515396.1:n.1257+8C>T | |
| ENST00000703613.1:c.1317+8C>T | ENSP00000515397.1:n.1317+8C>T | |
| ENST00000703614.1:c.1266+8C>T | ENSP00000515398.1:n.1266+8C>T | |
| ENST00000703616.1:c.1392+8C>T | ENSP00000515400.1:n.1392+8C>T | |
| ENST00000703617.1:c.990+8C>T | ENSP00000515401.1:n.990+8C>T | |
| ENST00000703618.1:c.544+8C>T | ||
| ENST00000350908.9:c.1266+8C>T MANE Select | ENSP00000265436.7:n.1266+8C>T | |
| ENST00000393489.8:c.*1060+8C>T | ENSP00000377129.4:n.*1060+8C>T | |
| ENST00000350908.8:c.1266+8C>T | ENSP00000265436.7:n.1266+8C>T | |
| ENST00000360232.8:c.1274C>T | ENSP00000353367.4:p.Ala425Val | |
| ENST00000390668.3:c.1346C>T | ENSP00000375084.3:p.Ala449Val | |
| ENST00000393489.7:c.990+8C>T | ENSP00000377129.3:n.990+8C>T | |
| ENST00000393491.7:c.990+8C>T | ENSP00000377130.3:n.990+8C>T | |
| ENST00000393494.6:c.1266+8C>T | ENSP00000377132.2:n.1266+8C>T | |
| ENST00000393498.6:c.1203+8C>T | ENSP00000377135.2:n.1203+8C>T | |
| ENST00000403559.8:c.1317+8C>T | ENSP00000385069.4:n.1317+8C>T | |
| ENST00000408937.7:c.1341+8C>T | ENSP00000386200.3:n.1341+8C>T | |
| ENST00000412402.5:c.*1186+8C>T | ENSP00000405470.1:n.*1186+8C>T | |
| ENST00000441290.6:c.*1111+8C>T | ENSP00000416825.1:n.*1111+8C>T | |
| ENST00000634411.1:c.1215+8C>T | ENSP00000489135.1:n.1215+8C>T | |
| ENST00000634623.1:c.1206+8C>T | ENSP00000488944.1:n.1206+8C>T | |
| ENST00000635109.1:c.*1063+8C>T | ENSP00000489457.1:n.*1063+8C>T | |
| ENST00000635534.1:c.1257+8C>T | ENSP00000489229.1:n.1257+8C>T | |
| ENST00000635638.1:c.1269+8C>T | ENSP00000489073.1:n.1269+8C>T | |
| NM_001172766.2:c.1263+8C>T | NP_001166237.1:n.1263+8C>T | |
| NM_001172767.2:c.1349C>T | NP_001166238.1:p.Ala450Val | |
| NM_014491.3:c.1266+8C>T | NP_055306.1:n.1266+8C>T | |
| NM_148898.3:c.1341+8C>T | NP_683696.2:n.1341+8C>T | |
| NM_148899.3:c.1274C>T | NP_683697.2:p.Ala425Val | |
| NM_148900.3:c.1317+8C>T | NP_683698.2:n.1317+8C>T | |
| NR_033766.1:n.1853+8C>T | ||
| NR_033767.1:n.1698+8C>T | ||
| XM_011516706.1:c.1410+8C>T | XP_011515008.1:n.1410+8C>T | |
| XM_017012801.2:c.1341+8C>T | XP_016868290.1:n.1341+8C>T | |
| NM_014491.4:c.1266+8C>T MANE Select | NP_055306.1:n.1266+8C>T | |
| NM_001172766.3:c.1263+8C>T | NP_001166237.1:n.1263+8C>T | |
| NM_148898.4:c.1341+8C>T | NP_683696.2:n.1341+8C>T | |
| NR_033766.2:n.1836+8C>T | ||
| NR_033767.2:n.1880+8C>T | ||
| NM_148900.4:c.1317+8C>T | NP_683698.2:n.1317+8C>T |