Linked Data
ClinVar Variation Id:
356016
dbSNP Id:
rs191486604
ExAC:
6:161771240 C / T
gnomAD v2:
6-161771240-C-T
gnomAD v3:
6-161350208-C-T
gnomAD v4:
6-161350208-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.161350208C>T , CM000668.2:g.161350208C>T | GRCh38 |
| NC_000006.11:g.161771240C>T , CM000668.1:g.161771240C>T | GRCh37 |
| NC_000006.10:g.161691230C>T | NCBI36 |
| NG_008289.1:g.1382595G>A | |
| NG_008289.2:g.1382595G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338468.8:c.1167G>A | ENSP00000343589.4:n.1167G>A | |
| ENST00000366894.6:c.1048G>A | ENSP00000355860.2:n.1048G>A | |
| ENST00000366898.6:c.1289G>A MANE Select | ENSP00000355865.1:p.Gly430Asp | |
| ENST00000673871.1:c.1370G>A | ||
| ENST00000674006.1:n.674G>A | ||
| ENST00000674436.1:n.925G>A | ||
| ENST00000338468.7:c.716G>A | ENSP00000343589.3:p.Gly239Asp | |
| ENST00000366894.5:c.716G>A | ENSP00000355860.1:p.Gly239Asp | |
| ENST00000366896.5:c.842G>A | ENSP00000355862.1:p.Gly281Asp | |
| ENST00000366897.5:c.1205G>A | ENSP00000355863.1:p.Gly402Asp | |
| ENST00000366898.5:c.1289G>A | ENSP00000355865.1:p.Gly430Asp | |
| ENST00000479615.5:c.*65G>A | ENSP00000434414.1:n.*65G>A | |
| ENST00000610470.4:c.422G>A | ENSP00000483773.1:p.Gly141Asp | |
| NM_004562.2:c.1289G>A | NP_004553.2:p.Gly430Asp | |
| NM_013987.2:c.1205G>A | NP_054642.2:p.Gly402Asp | |
| NM_013988.2:c.842G>A | NP_054643.2:p.Gly281Asp | |
| XM_011535863.1:c.1286G>A | XP_011534165.1:p.Gly429Asp | |
| XM_017010908.1:c.1403G>A | XP_016866397.1:p.Gly468Asp | |
| XM_017010909.2:c.1049G>A | XP_016866398.1:p.Gly350Asp | |
| XM_024446449.1:c.1052G>A | XP_024302217.1:p.Gly351Asp | |
| XR_001743443.2:n.1481G>A | ||
| NM_004562.3:c.1289G>A MANE Select | NP_004553.2:p.Gly430Asp | |
| NM_013987.3:c.1205G>A | NP_054642.2:p.Gly402Asp | |
| NM_013988.3:c.842G>A | NP_054643.2:p.Gly281Asp |