Linked Data
ClinVar Variation Id:
802894
ClinVar RCV Id:
RCV000988911
dbSNP Id:
rs536609944
ExAC:
12:112037104 G / A
gnomAD v2:
12-112037104-G-A
gnomAD v3:
12-111599300-G-A
gnomAD v4:
12-111599300-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111599300G>A , CM000674.2:g.111599300G>A | GRCh38 |
| NC_000012.11:g.112037104G>A , CM000674.1:g.112037104G>A | GRCh37 |
| NC_000012.10:g.110521487G>A | NCBI36 |
| NG_011572.1:g.5377C>T | |
| NG_011572.2:g.5377C>T | |
| NG_011572.3:g.5377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643669.2:c.-266C>T | ENSP00000494663.1:n.-266C>T | |
| ENST00000672613.1:c.-266C>T | ENSP00000500649.1:n.-266C>T | |
| ENST00000673436.1:c.-266C>T MANE Select | ENSP00000500925.1:n.-266C>T | |
| ENST00000377617.7:c.215C>T | ENSP00000366843.3:p.Ser72Phe | |
| ENST00000535949.5:c.-28+275C>T | ENSP00000439338.1:n.-28+275C>T | |
| ENST00000542287.6:c.-65+275C>T | ENSP00000445583.2:n.-65+275C>T | |
| ENST00000550104.5:c.215C>T | ENSP00000446576.2:p.Ser72Phe | |
| ENST00000608853.5:c.-266C>T | ENSP00000476504.1:n.-266C>T | |
| ENST00000616825.4:c.-581C>T | ENSP00000481448.1:n.-581C>T | |
| NM_001310121.1:c.-65+275C>T | NP_001297050.1:n.-65+275C>T | |
| NM_001310123.1:c.-28+275C>T | NP_001297052.1:n.-28+275C>T | |
| NM_002973.3:c.215C>T | NP_002964.3:p.Ser72Phe | |
| NR_132311.1:n.377C>T | ||
| NM_001372574.1:c.-266C>T MANE Select | NP_001359503.1:n.-266C>T | |
| NM_002973.4:c.-266C>T | NP_002964.4:n.-266C>T | |
| NR_132311.2:n.16C>T |