Linked Data
ClinVar Variation Id:
81472
dbSNP Id:
rs80046653
ExAC:
19:8649788 C / T
gnomAD v2:
19-8649788-C-T
gnomAD v3:
19-8584904-C-T
gnomAD v4:
19-8584904-C-T
COSMIC:
COSM142230
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8584904C>T , CM000681.2:g.8584904C>T | GRCh38 |
| NC_000019.9:g.8649788C>T , CM000681.1:g.8649788C>T | GRCh37 |
| NC_000019.8:g.8555788C>T | NCBI36 |
| NG_011840.2:g.30799G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000597188.6:c.3193G>A MANE Select | ENSP00000471851.1:p.Gly1065Ser | |
| ENST00000270328.8:c.3193G>A | ENSP00000270328.4:p.Gly1065Ser | |
| ENST00000593913.5:c.*2070G>A | ENSP00000469901.1:n.*2070G>A | |
| ENST00000595838.5:c.1654G>A | ENSP00000470501.1:p.Gly552Ser | |
| ENST00000597188.5:c.3193G>A | ENSP00000471851.1:p.Gly1065Ser | |
| NM_001282352.1:c.1654G>A | NP_001269281.1:p.Gly552Ser | |
| NM_030957.3:c.3193G>A | NP_112219.3:p.Gly1065Ser | |
| XM_006722917.2:c.2236G>A | XP_006722980.1:p.Gly746Ser | |
| XM_011528331.1:c.3340G>A | XP_011526633.1:p.Gly1114Ser | |
| XM_011528332.1:c.3340G>A | XP_011526634.1:p.Gly1114Ser | |
| XM_011528333.1:c.3340G>A | XP_011526635.1:p.Gly1114Ser | |
| XM_011528334.1:c.3016G>A | XP_011526636.1:p.Gly1006Ser | |
| XM_011528335.1:c.1909G>A | XP_011526637.1:p.Gly637Ser | |
| XM_011528336.1:c.1903G>A | XP_011526638.1:p.Gly635Ser | |
| XM_006722917.3:c.2236G>A | XP_006722980.1:p.Gly746Ser | |
| XM_017027338.2:c.3193G>A | XP_016882827.1:p.Gly1065Ser | |
| XM_017027339.1:c.1762G>A | XP_016882828.1:p.Gly588Ser | |
| XM_017027340.1:c.1756G>A | XP_016882829.1:p.Gly586Ser | |
| NM_030957.4:c.3193G>A MANE Select | NP_112219.3:p.Gly1065Ser | |
| NM_001282352.2:c.1654G>A | NP_001269281.1:p.Gly552Ser |