Linked Data
dbSNP Id:
rs13225697
gnomAD v2:
7-7760481-T-C
gnomAD v3:
7-7720850-T-C
gnomAD v4:
7-7720850-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7720850T>C , CM000669.2:g.7720850T>C | GRCh38 |
| NC_000007.13:g.7760481T>C , CM000669.1:g.7760481T>C | GRCh37 |
| NC_000007.12:g.7727006T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682710.1:c.82+47397T>C MANE Select | ENSP00000507605.1:n.82+47397T>C | |
| ENST00000463725.5:n.322+44642T>C | ||
| ENST00000482067.3:n.173+47397T>C | ||
| ENST00000493246.5:n.459-17861T>C | ||
| ENST00000636849.1:c.82+47397T>C | ENSP00000489648.1:n.82+47397T>C | |
| ENST00000638342.1:c.82+47397T>C | ENSP00000491286.1:n.82+47397T>C | |
| ENST00000639110.1:c.82+47397T>C | ENSP00000491319.1:n.82+47397T>C | |
| ENST00000639343.1:c.83-17861T>C | ENSP00000491077.1:n.83-17861T>C | |
| NM_001302348.1:c.82+47397T>C | NP_001289277.1:n.82+47397T>C | |
| NM_001302349.1:c.82+47397T>C | NP_001289278.1:n.82+47397T>C | |
| NM_001302350.1:c.-24+44642T>C | NP_001289279.1:n.-24+44642T>C | |
| NM_001302348.2:c.82+47397T>C MANE Select | NP_001289277.1:n.82+47397T>C | |
| NM_001302349.2:c.82+47397T>C | NP_001289278.1:n.82+47397T>C | |
| NM_001302350.2:c.-24+44642T>C | NP_001289279.1:n.-24+44642T>C |