Linked Data
ClinVar Variation Id:
2877837
ClinVar RCV Id:
RCV003735478
dbSNP Id:
rs1275101391
gnomAD v2:
6-129802575-G-A
gnomAD v3:
6-129481430-G-A
gnomAD v4:
6-129481430-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129481430G>A , CM000668.2:g.129481430G>A | GRCh38 |
| NC_000006.11:g.129802575G>A , CM000668.1:g.129802575G>A | GRCh37 |
| NC_000006.10:g.129844268G>A | NCBI36 |
| NG_008678.1:g.603290G>A , LRG_409:g.603290G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.7728G>A | ENSP00000481744.2:p.Gln2576= | |
| ENST00000618192.5:c.8004G>A | ENSP00000480802.2:p.Gln2668= | |
| ENST00000421865.3:c.7740G>A MANE Select | ENSP00000400365.2:p.Gln2580= | |
| ENST00000421865.2:c.7740G>A | ENSP00000400365.2:p.Gln2580= | |
| ENST00000617695.4:c.7728G>A | ENSP00000481744.1:p.Gln2576= | |
| ENST00000618192.4:c.7737G>A | ENSP00000480802.1:p.Gln2579= | |
| NM_000426.3:c.7740G>A , LRG_409t1:c.7740G>A | NP_000417.2:p.Gln2580= | |
| NM_001079823.1:c.7728G>A | NP_001073291.1:p.Gln2576= | |
| XM_005266981.2:c.8004G>A | XP_005267038.1:p.Gln2668= | |
| XM_005266982.2:c.7992G>A | XP_005267039.1:p.Gln2664= | |
| XM_011535820.1:c.7998G>A | XP_011534122.1:p.Gln2666= | |
| XM_005266981.3:c.8004G>A | XP_005267038.1:p.Gln2668= | |
| XM_005266982.3:c.7992G>A | XP_005267039.1:p.Gln2664= | |
| XM_011535820.2:c.7998G>A | XP_011534122.1:p.Gln2666= | |
| XM_017010851.2:c.8010G>A | XP_016866340.1:p.Gln2670= | |
| XM_017010852.1:c.6135G>A | XP_016866341.1:p.Gln2045= | |
| NM_000426.4:c.7740G>A MANE Select | NP_000417.3:p.Gln2580= | |
| NM_001079823.2:c.7728G>A | NP_001073291.2:p.Gln2576= |