Linked Data
dbSNP Id:
rs754985269
gnomAD v2:
1-43392717-C-A
gnomAD v3:
1-42927046-C-A
gnomAD v4:
1-42927046-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927046C>A , CM000663.2:g.42927046C>A | GRCh38 |
| NC_000001.10:g.43392717C>A , CM000663.1:g.43392717C>A | GRCh37 |
| NC_000001.9:g.43165304C>A | NCBI36 |
| NG_008232.1:g.37131G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1474G>T MANE Select | ENSP00000416293.2:p.Val492Leu | |
| ENST00000674545.1:n.2091G>T | ||
| ENST00000674765.1:c.1030-189G>T | ENSP00000501811.1:n.1030-189G>T | |
| ENST00000675112.1:n.1775G>T | ||
| ENST00000676254.1:n.1923G>T | ||
| ENST00000426263.7:c.1474G>T | ENSP00000416293.2:p.Val492Leu | |
| ENST00000475162.3:c.416-68G>T | ||
| ENST00000630287.2:c.*789G>T | ENSP00000486694.1:n.*789G>T | |
| NM_006516.2:c.1474G>T | NP_006507.2:p.Val492Leu | |
| NM_006516.3:c.1474G>T | NP_006507.2:p.Val492Leu | |
| NM_006516.4:c.1474G>T MANE Select | NP_006507.2:p.Val492Leu |