Linked Data
dbSNP Id:
rs11231299
gnomAD v2:
11-62771388-G-A
gnomAD v3:
11-63003916-G-A
gnomAD v4:
11-63003916-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63003916G>A , CM000673.2:g.63003916G>A | GRCh38 |
| NC_000011.9:g.62771388G>A , CM000673.1:g.62771388G>A | GRCh37 |
| NC_000011.8:g.62527964G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336232.7:c.334-3093C>T MANE Select | ENSP00000337335.2:n.334-3093C>T | |
| ENST00000311438.12:c.334-3093C>T | ENSP00000311463.8:n.334-3093C>T | |
| ENST00000336232.6:c.334-3093C>T | ENSP00000337335.2:n.334-3093C>T | |
| ENST00000430500.6:c.334-3093C>T | ENSP00000398548.2:n.334-3093C>T | |
| ENST00000535878.5:c.-36-3093C>T | ENSP00000443368.1:n.-36-3093C>T | |
| ENST00000545207.5:c.61-3093C>T | ENSP00000441658.1:n.61-3093C>T | |
| NM_001184732.1:c.334-3093C>T | NP_001171661.1:n.334-3093C>T | |
| NM_001184733.1:c.61-3093C>T | NP_001171662.1:n.61-3093C>T | |
| NM_001184736.1:c.-36-3093C>T | NP_001171665.1:n.-36-3093C>T | |
| NM_004254.3:c.334-3093C>T | NP_004245.2:n.334-3093C>T | |
| NM_004254.4:c.334-3093C>T MANE Select | NP_004245.2:n.334-3093C>T | |
| NM_001184732.2:c.334-3093C>T | NP_001171661.1:n.334-3093C>T | |
| NM_001184733.2:c.61-3093C>T | NP_001171662.1:n.61-3093C>T | |
| NM_001184736.2:c.-36-3093C>T | NP_001171665.1:n.-36-3093C>T |