Linked Data
ClinVar Variation Id:
1459642
ClinVar RCV Id:
RCV001980227
dbSNP Id:
rs1451455641
gnomAD v2:
17-7127048-C-A
gnomAD v3:
17-7223729-C-A
gnomAD v4:
17-7223729-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223729C>A , CM000679.2:g.7223729C>A | GRCh38 |
| NC_000017.10:g.7127048C>A , CM000679.1:g.7127048C>A | GRCh37 |
| NC_000017.9:g.7067772C>A | NCBI36 |
| NG_007975.1:g.8896C>A | |
| NG_008391.2:g.1322G>T | |
| NG_033038.1:g.15816G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1268C>A MANE Select | ENSP00000349297.5:p.Ser423Ter | |
| ENST00000322910.9:c.*1223C>A | ENSP00000325395.5:n.*1223C>A | |
| ENST00000350303.9:c.1202C>A | ENSP00000344152.5:p.Ser401Ter | |
| ENST00000356839.9:c.1268C>A | ENSP00000349297.5:p.Ser423Ter | |
| ENST00000542255.6:c.126C>A | ||
| ENST00000543245.6:c.1337C>A | ENSP00000438689.2:p.Ser446Ter | |
| ENST00000578579.2:n.439C>A | ||
| ENST00000578711.1:n.225C>A | ||
| ENST00000578824.5:n.684C>A | ||
| ENST00000579425.5:n.292C>A | ||
| ENST00000579546.1:c.105C>A | ||
| ENST00000583850.5:n.43C>A | ||
| ENST00000583858.5:c.297C>A | ||
| ENST00000585203.6:n.476C>A | ||
| NM_000018.3:c.1268C>A | NP_000009.1:p.Ser423Ter | |
| NM_001033859.2:c.1202C>A | NP_001029031.1:p.Ser401Ter | |
| NM_001270447.1:c.1337C>A | NP_001257376.1:p.Ser446Ter | |
| NM_001270448.1:c.1040C>A | NP_001257377.1:p.Ser347Ter | |
| XM_006721516.2:c.1268C>A | XP_006721579.2:p.Ser423Ter | |
| XM_011523829.1:c.1268C>A | XP_011522131.1:p.Ser423Ter | |
| XM_011523830.1:c.1268C>A | XP_011522132.1:p.Ser423Ter | |
| XR_934021.1:n.1375C>A | ||
| XR_934022.1:n.1375C>A | ||
| XR_934023.1:n.1375C>A | ||
| XM_006721516.3:c.1268C>A | XP_006721579.2:p.Ser423Ter | |
| XM_011523829.2:c.1268C>A | XP_011522131.1:p.Ser423Ter | |
| XM_011523830.2:c.1268C>A | XP_011522132.1:p.Ser423Ter | |
| XM_024450741.1:c.1268C>A | XP_024306509.1:p.Ser423Ter | |
| XR_934021.2:n.1327C>A | ||
| XR_934022.2:n.1327C>A | ||
| XR_934023.2:n.1327C>A | ||
| NM_000018.4:c.1268C>A MANE Select | NP_000009.1:p.Ser423Ter | |
| NM_001033859.3:c.1202C>A | NP_001029031.1:p.Ser401Ter | |
| NM_001270447.2:c.1337C>A | NP_001257376.1:p.Ser446Ter | |
| NM_001270448.2:c.1040C>A | NP_001257377.1:p.Ser347Ter |