Linked Data
dbSNP Id:
rs757897092
ExAC:
9:131707942 G / A
gnomAD v2:
9-131707942-G-A
gnomAD v3:
9-128945663-G-A
gnomAD v4:
9-128945663-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945663G>A , CM000671.2:g.128945663G>A | GRCh38 |
| NC_000009.11:g.131707942G>A , CM000671.1:g.131707942G>A | GRCh37 |
| NC_000009.10:g.130747763G>A | NCBI36 |
| NG_017009.1:g.7071C>T , LRG_744:g.7071C>T | |
| NG_033111.1:g.2971G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.*24C>T MANE Select | ENSP00000361667.3:n.*24C>T | |
| ENST00000372586.3:c.*24C>T | ENSP00000361667.3:n.*24C>T | |
| ENST00000482796.1:c.39-3526G>A | ENSP00000417556.2:n.39-3526G>A | |
| NM_014908.3:c.*24C>T , LRG_744t1:c.*24C>T | NP_055723.1:n.*24C>T | |
| NM_014908.4:c.*24C>T MANE Select | NP_055723.1:n.*24C>T |