Linked Data
dbSNP Id:
rs782666844
ExAC:
7:75211478 G / A
gnomAD v2:
7-75211478-G-A
gnomAD v4:
7-75582162-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75582162G>A , CM000669.2:g.75582162G>A | GRCh38 |
| NC_000007.13:g.75211478G>A , CM000669.1:g.75211478G>A | GRCh37 |
| NC_000007.12:g.75049414G>A | NCBI36 |
| NG_023251.2:g.161800C>T | |
| NG_023251.3:g.161800C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336926.11:c.466-11C>T MANE Select | ENSP00000336747.6:n.466-11C>T | |
| ENST00000336926.10:c.466-11C>T | ENSP00000336747.6:n.466-11C>T | |
| ENST00000420909.1:c.379-11C>T | ENSP00000414280.1:n.379-11C>T | |
| ENST00000434438.6:c.466-11C>T | ENSP00000410300.2:n.466-11C>T | |
| ENST00000616821.4:c.379-11C>T | ENSP00000484528.1:n.379-11C>T | |
| NM_001243198.2:c.466-11C>T | NP_001230127.1:n.466-11C>T | |
| NM_005338.6:c.466-11C>T | NP_005329.3:n.466-11C>T | |
| XM_005250304.2:c.379-11C>T | XP_005250361.1:n.379-11C>T | |
| XM_005250305.2:c.364-11C>T | XP_005250362.1:n.364-11C>T | |
| XM_011516116.1:c.466-11C>T | XP_011514418.1:n.466-11C>T | |
| XM_011516116.2:c.466-11C>T | XP_011514418.1:n.466-11C>T | |
| XM_017012099.1:c.424-11C>T | XP_016867588.1:n.424-11C>T | |
| NM_005338.7:c.466-11C>T MANE Select | NP_005329.3:n.466-11C>T | |
| NM_001243198.3:c.466-11C>T | NP_001230127.1:n.466-11C>T | |
| NM_001382444.1:c.364-11C>T | NP_001369373.1:n.364-11C>T | |
| NM_001382445.1:c.379-11C>T | NP_001369374.1:n.379-11C>T |