Linked Data
dbSNP Id:
rs760584366
ExAC:
10:96796894 G / A
gnomAD v2:
10-96796894-G-A
gnomAD v3:
10-95037137-G-A
gnomAD v4:
10-95037137-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95037137G>A , CM000672.2:g.95037137G>A | GRCh38 |
| NC_000010.10:g.96796894G>A , CM000672.1:g.96796894G>A | GRCh37 |
| NC_000010.9:g.96786884G>A | NCBI36 |
| NG_007972.1:g.37361C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.1464C>T MANE Select | ENSP00000360317.3:p.Ile488= | |
| ENST00000371270.5:c.1464C>T | ENSP00000360317.3:p.Ile488= | |
| ENST00000490994.6:c.*1250C>T | ENSP00000433314.1:n.*1250C>T | |
| ENST00000525991.5:c.*1039C>T | ENSP00000433842.1:n.*1039C>T | |
| ENST00000526814.5:n.1719C>T | ||
| ENST00000527420.5:c.*321C>T | ENSP00000433191.1:n.*321C>T | |
| ENST00000527953.5:n.1758C>T | ||
| ENST00000533320.5:n.1698C>T | ||
| ENST00000535898.5:c.1158C>T | ENSP00000445062.1:p.Ile386= | |
| ENST00000539050.5:c.1254C>T | ENSP00000442343.2:p.Ile418= | |
| ENST00000623108.3:c.1254C>T | ENSP00000485110.1:p.Ile418= | |
| NM_000770.3:c.1464C>T MANE Select | NP_000761.3:p.Ile488= | |
| NM_001198853.1:c.1254C>T | NP_001185782.1:p.Ile418= | |
| NM_001198854.1:c.1158C>T | NP_001185783.1:p.Ile386= | |
| NM_001198855.1:c.1254C>T | NP_001185784.1:p.Ile418= |