Linked Data
ClinVar Variation Id:
1721589
ClinVar RCV Id:
RCV002305316
dbSNP Id:
rs768750627
gnomAD v2:
3-167506972-C-T
gnomAD v3:
3-167789184-C-T
gnomAD v4:
3-167789184-C-T
COSMIC:
COSM5995229
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.167789184C>T , CM000665.2:g.167789184C>T | GRCh38 |
| NC_000003.11:g.167506972C>T , CM000665.1:g.167506972C>T | GRCh37 |
| NC_000003.10:g.168989666C>T | NCBI36 |
| NG_008217.1:g.58541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446050.7:c.56C>T MANE Select | ENSP00000397373.2:p.Ala19Val | |
| ENST00000295777.9:c.56C>T | ENSP00000295777.5:p.Ala19Val | |
| ENST00000446050.6:c.56C>T | ENSP00000397373.2:p.Ala19Val | |
| ENST00000472747.2:c.56C>T | ENSP00000420561.2:p.Ala19Val | |
| ENST00000472941.5:c.56C>T | ENSP00000420133.1:p.Ala19Val | |
| NM_001122752.1:c.56C>T | NP_001116224.1:p.Ala19Val | |
| NM_005025.4:c.56C>T | NP_005016.1:p.Ala19Val | |
| XM_017006618.2:c.56C>T | XP_016862107.1:p.Ala19Val | |
| NM_001122752.2:c.56C>T MANE Select | NP_001116224.1:p.Ala19Val | |
| NM_005025.5:c.56C>T | NP_005016.1:p.Ala19Val |