Linked Data
ClinVar Variation Id:
322941
dbSNP Id:
rs2229295
ExAC:
17:36047276 G / T
gnomAD v2:
17-36047276-G-T
gnomAD v3:
17-37687273-G-T
gnomAD v4:
17-37687273-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37687273G>T , CM000679.2:g.37687273G>T | GRCh38 |
| NC_000017.10:g.36047276G>T , CM000679.1:g.36047276G>T | GRCh37 |
| NC_000017.9:g.33121389G>T | NCBI36 |
| NG_013019.2:g.62834C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617811.5:c.*99C>A MANE Select | ENSP00000480291.1:n.*99C>A | |
| ENST00000613727.4:c.*7C>A | ENSP00000477524.1:n.*7C>A | |
| ENST00000614313.4:c.*7C>A | ENSP00000482529.1:n.*7C>A | |
| ENST00000617272.4:c.*377C>A | ENSP00000478682.1:n.*377C>A | |
| ENST00000617811.4:c.*99C>A | ENSP00000480291.1:n.*99C>A | |
| ENST00000621123.4:c.*99C>A | ENSP00000482711.1:n.*99C>A | |
| NM_000458.3:c.*99C>A | NP_000449.1:n.*99C>A | |
| NM_001165923.3:c.*99C>A | NP_001159395.1:n.*99C>A | |
| NM_001304286.1:c.*7C>A | NP_001291215.1:n.*7C>A | |
| XM_011525160.1:c.*7C>A | XP_011523462.1:n.*7C>A | |
| XM_011525161.1:c.*99C>A | XP_011523463.1:n.*99C>A | |
| XM_011525164.1:c.*7C>A | XP_011523466.1:n.*7C>A | |
| XR_002958135.1:n.1591+27G>T | ||
| NM_000458.4:c.*99C>A MANE Select | NP_000449.1:n.*99C>A | |
| NM_001165923.4:c.*99C>A | NP_001159395.1:n.*99C>A | |
| NM_001304286.2:c.*7C>A | NP_001291215.1:n.*7C>A |