Linked Data
ClinVar Variation Id:
2043239
dbSNP Id:
rs543142909
gnomAD v2:
17-36091632-G-A
gnomAD v4:
17-37731641-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37731641G>A , CM000679.2:g.37731641G>A | GRCh38 |
| NC_000017.10:g.36091632G>A , CM000679.1:g.36091632G>A | GRCh37 |
| NC_000017.9:g.33165745G>A | NCBI36 |
| NG_013019.2:g.18466C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617811.5:c.999C>T MANE Select | ENSP00000480291.1:p.Gly333= | |
| ENST00000613727.4:c.921C>T | ENSP00000477524.1:p.Gly307= | |
| ENST00000614313.4:c.999C>T | ENSP00000482529.1:p.Gly333= | |
| ENST00000617272.4:c.999C>T | ENSP00000478682.1:p.Gly333= | |
| ENST00000617811.4:c.999C>T | ENSP00000480291.1:p.Gly333= | |
| ENST00000618894.1:n.451C>T | ||
| ENST00000621123.4:c.921C>T | ENSP00000482711.1:p.Gly307= | |
| NM_000458.3:c.999C>T | NP_000449.1:p.Gly333= | |
| NM_001165923.3:c.921C>T | NP_001159395.1:p.Gly307= | |
| NM_001304286.1:c.921C>T | NP_001291215.1:p.Gly307= | |
| XM_011525160.1:c.999C>T | XP_011523462.1:p.Gly333= | |
| XM_011525161.1:c.999C>T | XP_011523463.1:p.Gly333= | |
| XM_011525162.1:c.999C>T | XP_011523464.1:p.Gly333= | |
| XM_011525163.1:c.999C>T | XP_011523465.1:p.Gly333= | |
| XM_011525164.1:c.921C>T | XP_011523466.1:p.Gly307= | |
| XM_011525162.2:c.999C>T | XP_011523464.1:p.Gly333= | |
| XM_011525163.2:c.999C>T | XP_011523465.1:p.Gly333= | |
| NM_000458.4:c.999C>T MANE Select | NP_000449.1:p.Gly333= | |
| NM_001165923.4:c.921C>T | NP_001159395.1:p.Gly307= | |
| NM_001304286.2:c.921C>T | NP_001291215.1:p.Gly307= |