Linked Data
dbSNP Id:
rs1316868048
gnomAD v2:
12-112007780-C-T
gnomAD v3:
12-111569976-C-T
gnomAD v4:
12-111569976-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111569976C>T , CM000674.2:g.111569976C>T | GRCh38 |
| NC_000012.11:g.112007780C>T , CM000674.1:g.112007780C>T | GRCh37 |
| NC_000012.10:g.110492163C>T | NCBI36 |
| NG_011572.1:g.34701G>A | |
| NG_011572.2:g.34701G>A | |
| NG_011572.3:g.34701G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389153.10:c.252-14057G>A | ENSP00000373805.6:n.252-14057G>A | |
| ENST00000483311.6:c.252-14057G>A | ENSP00000446512.2:n.252-14057G>A | |
| ENST00000642389.2:c.252-14057G>A | ENSP00000496055.2:n.252-14057G>A | |
| ENST00000643669.2:c.252-14057G>A | ENSP00000494663.1:n.252-14057G>A | |
| ENST00000644883.1:c.252-14057G>A | ENSP00000496279.1:n.252-14057G>A | |
| ENST00000647305.1:c.252-14057G>A | ENSP00000493897.1:n.252-14057G>A | |
| ENST00000671792.1:c.91-14057G>A | ||
| ENST00000672105.1:n.74-14057G>A | ||
| ENST00000672335.1:n.405-14057G>A | ||
| ENST00000672613.1:c.252-14057G>A | ENSP00000500649.1:n.252-14057G>A | |
| ENST00000673283.1:c.252-14057G>A | ENSP00000500313.1:n.252-14057G>A | |
| ENST00000673436.1:c.252-14057G>A MANE Select | ENSP00000500925.1:n.252-14057G>A | |
| ENST00000673449.1:c.252-14057G>A | ENSP00000500646.1:n.252-14057G>A | |
| ENST00000673557.1:c.252-14057G>A | ENSP00000500766.1:n.252-14057G>A | |
| ENST00000377617.7:c.732-14057G>A | ENSP00000366843.3:n.732-14057G>A | |
| ENST00000389153.8:c.-64-14057G>A | ENSP00000373805.4:n.-64-14057G>A | |
| ENST00000392645.6:n.652-14057G>A | ||
| ENST00000483311.5:c.494-14057G>A | ||
| ENST00000535949.5:c.-27-15759G>A | ENSP00000439338.1:n.-27-15759G>A | |
| ENST00000542287.6:c.-64-14057G>A | ENSP00000445583.2:n.-64-14057G>A | |
| ENST00000548492.1:c.58-16999G>A | ENSP00000449566.1:n.58-16999G>A | |
| ENST00000549455.1:n.279+28808G>A | ||
| ENST00000550104.5:c.732-14057G>A | ENSP00000446576.2:n.732-14057G>A | |
| ENST00000608853.5:c.252-14057G>A | ENSP00000476504.1:n.252-14057G>A | |
| ENST00000616825.4:c.-64-14057G>A | ENSP00000481448.1:n.-64-14057G>A | |
| NM_001310121.1:c.-64-14057G>A | NP_001297050.1:n.-64-14057G>A | |
| NM_001310123.1:c.-27-15759G>A | NP_001297052.1:n.-27-15759G>A | |
| NM_002973.3:c.732-14057G>A | NP_002964.3:n.732-14057G>A | |
| NR_132311.1:n.894-14057G>A | ||
| NM_001372574.1:c.252-14057G>A MANE Select | NP_001359503.1:n.252-14057G>A | |
| NM_002973.4:c.252-14057G>A | NP_002964.4:n.252-14057G>A | |
| NR_132311.2:n.533-14057G>A |