Linked Data
ClinVar Variation Id:
2866761
ClinVar RCV Id:
RCV003600071
dbSNP Id:
rs1321154310
gnomAD v2:
17-7125586-T-C
gnomAD v4:
17-7222267-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222267T>C , CM000679.2:g.7222267T>C | GRCh38 |
| NC_000017.10:g.7125586T>C , CM000679.1:g.7125586T>C | GRCh37 |
| NC_000017.9:g.7066310T>C | NCBI36 |
| NG_007975.1:g.7434T>C | |
| NG_008391.2:g.2784A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.843T>C MANE Select | ENSP00000349297.5:p.Ala281= | |
| ENST00000322910.9:c.*798T>C | ENSP00000325395.5:n.*798T>C | |
| ENST00000350303.9:c.777T>C | ENSP00000344152.5:p.Ala259= | |
| ENST00000356839.9:c.843T>C | ENSP00000349297.5:p.Ala281= | |
| ENST00000543245.6:c.912T>C | ENSP00000438689.2:p.Ala304= | |
| ENST00000577191.5:n.1015T>C | ||
| ENST00000581378.5:c.561T>C | ||
| ENST00000582379.1:n.227T>C | ||
| NM_000018.3:c.843T>C | NP_000009.1:p.Ala281= | |
| NM_001033859.2:c.777T>C | NP_001029031.1:p.Ala259= | |
| NM_001270447.1:c.912T>C | NP_001257376.1:p.Ala304= | |
| NM_001270448.1:c.615T>C | NP_001257377.1:p.Ala205= | |
| XM_006721516.2:c.843T>C | XP_006721579.2:p.Ala281= | |
| XM_011523829.1:c.843T>C | XP_011522131.1:p.Ala281= | |
| XM_011523830.1:c.843T>C | XP_011522132.1:p.Ala281= | |
| XR_934021.1:n.950T>C | ||
| XR_934022.1:n.950T>C | ||
| XR_934023.1:n.950T>C | ||
| XM_006721516.3:c.843T>C | XP_006721579.2:p.Ala281= | |
| XM_011523829.2:c.843T>C | XP_011522131.1:p.Ala281= | |
| XM_011523830.2:c.843T>C | XP_011522132.1:p.Ala281= | |
| XM_024450741.1:c.843T>C | XP_024306509.1:p.Ala281= | |
| XR_934021.2:n.902T>C | ||
| XR_934022.2:n.902T>C | ||
| XR_934023.2:n.902T>C | ||
| NM_000018.4:c.843T>C MANE Select | NP_000009.1:p.Ala281= | |
| NM_001033859.3:c.777T>C | NP_001029031.1:p.Ala259= | |
| NM_001270447.2:c.912T>C | NP_001257376.1:p.Ala304= | |
| NM_001270448.2:c.615T>C | NP_001257377.1:p.Ala205= |