Linked Data
ClinVar Variation Id:
551021
ClinVar RCV Id:
RCV000665971
dbSNP Id:
rs1555529172
gnomAD v4:
17-7224993-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224993C>T , CM000679.2:g.7224993C>T | GRCh38 |
| NC_000017.10:g.7128312C>T , CM000679.1:g.7128312C>T | GRCh37 |
| NC_000017.9:g.7069036C>T | NCBI36 |
| NG_007975.1:g.10160C>T | |
| NG_008391.2:g.58G>A | |
| NG_033038.1:g.14552G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1864C>T MANE Select | ENSP00000349297.5:p.Gln622Ter | |
| ENST00000322910.9:c.*1819C>T | ENSP00000325395.5:n.*1819C>T | |
| ENST00000350303.9:c.1798C>T | ENSP00000344152.5:p.Gln600Ter | |
| ENST00000356839.9:c.1864C>T | ENSP00000349297.5:p.Gln622Ter | |
| ENST00000542255.6:c.743C>T | ||
| ENST00000543245.6:c.1933C>T | ENSP00000438689.2:p.Gln645Ter | |
| ENST00000578033.1:n.289C>T | ||
| ENST00000578319.5:n.445C>T | ||
| ENST00000578711.1:n.1489C>T | ||
| ENST00000578809.5:n.436C>T | ||
| ENST00000579425.5:n.980C>T | ||
| ENST00000583848.5:c.230C>T | ENSP00000466487.1:n.230C>T | |
| ENST00000583850.5:n.635C>T | ||
| ENST00000583858.5:c.795C>T | ||
| NM_000018.3:c.1864C>T | NP_000009.1:p.Gln622Ter | |
| NM_001033859.2:c.1798C>T | NP_001029031.1:p.Gln600Ter | |
| NM_001270447.1:c.1933C>T | NP_001257376.1:p.Gln645Ter | |
| NM_001270448.1:c.1636C>T | NP_001257377.1:p.Gln546Ter | |
| XM_006721516.2:c.1885C>T | XP_006721579.2:p.Gln629Ter | |
| XM_011523829.1:c.1783C>T | XP_011522131.1:p.Gln595Ter | |
| XM_011523830.1:c.1762C>T | XP_011522132.1:p.Gln588Ter | |
| XR_934021.1:n.1967C>T | ||
| XR_934022.1:n.1873C>T | ||
| XR_934023.1:n.1894C>T | ||
| XM_006721516.3:c.1885C>T | XP_006721579.2:p.Gln629Ter | |
| XM_011523829.2:c.1783C>T | XP_011522131.1:p.Gln595Ter | |
| XM_011523830.2:c.1762C>T | XP_011522132.1:p.Gln588Ter | |
| XM_024450741.1:c.1852C>T | XP_024306509.1:p.Gln618Ter | |
| XR_934021.2:n.1919C>T | ||
| XR_934022.2:n.1825C>T | ||
| XR_934023.2:n.1846C>T | ||
| NM_000018.4:c.1864C>T MANE Select | NP_000009.1:p.Gln622Ter | |
| NM_001033859.3:c.1798C>T | NP_001029031.1:p.Gln600Ter | |
| NM_001270447.2:c.1933C>T | NP_001257376.1:p.Gln645Ter | |
| NM_001270448.2:c.1636C>T | NP_001257377.1:p.Gln546Ter |