Linked Data
dbSNP Id:
rs1562381196
gnomAD v2:
6-116914129-G-T
gnomAD v3:
6-116592966-G-T
gnomAD v4:
6-116592966-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116592966G>T , CM000668.2:g.116592966G>T | GRCh38 |
| NC_000006.11:g.116914129G>T , CM000668.1:g.116914129G>T | GRCh37 |
| NC_000006.10:g.117020822G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466444.7:c.611-14G>T MANE Select | ENSP00000420357.2:n.611-14G>T | |
| ENST00000466444.6:c.611-14G>T | ENSP00000420357.2:n.611-14G>T | |
| ENST00000487832.6:c.323-14G>T | ENSP00000428778.1:n.323-14G>T | |
| NM_001007464.2:c.323-14G>T | NP_001007465.1:n.323-14G>T | |
| NM_015952.3:c.611-14G>T | NP_057036.2:n.611-14G>T | |
| NM_016104.3:c.323-14G>T | NP_057188.2:n.323-14G>T | |
| NM_015952.4:c.611-14G>T MANE Select | NP_057036.2:n.611-14G>T | |
| NM_001007464.3:c.323-14G>T | NP_001007465.1:n.323-14G>T | |
| NM_016104.4:c.323-14G>T | NP_057188.2:n.323-14G>T |