Linked Data
ClinVar Variation Id:
2174501
ClinVar RCV Id:
RCV002587929
dbSNP Id:
rs1024901354
gnomAD v2:
17-7128378-C-T
gnomAD v3:
17-7225059-C-T
gnomAD v4:
17-7225059-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7225059C>T , CM000679.2:g.7225059C>T | GRCh38 |
| NC_000017.10:g.7128378C>T , CM000679.1:g.7128378C>T | GRCh37 |
| NC_000017.9:g.7069102C>T | NCBI36 |
| NG_007975.1:g.10226C>T | |
| NG_033038.1:g.14486G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1930C>T MANE Select | ENSP00000349297.5:p.Arg644Trp | |
| ENST00000322910.9:c.*1885C>T | ENSP00000325395.5:n.*1885C>T | |
| ENST00000350303.9:c.1864C>T | ENSP00000344152.5:p.Arg622Trp | |
| ENST00000356839.9:c.1930C>T | ENSP00000349297.5:p.Arg644Trp | |
| ENST00000542255.6:c.809C>T | ||
| ENST00000543245.6:c.1999C>T | ENSP00000438689.2:p.Arg667Trp | |
| ENST00000578033.1:n.355C>T | ||
| ENST00000578319.5:n.511C>T | ||
| ENST00000578711.1:n.1555C>T | ||
| ENST00000578809.5:n.502C>T | ||
| ENST00000579425.5:n.1046C>T | ||
| ENST00000583848.5:c.296C>T | ENSP00000466487.1:n.296C>T | |
| ENST00000583850.5:n.701C>T | ||
| ENST00000583858.5:c.861C>T | ||
| NM_000018.3:c.1930C>T | NP_000009.1:p.Arg644Trp | |
| NM_001033859.2:c.1864C>T | NP_001029031.1:p.Arg622Trp | |
| NM_001270447.1:c.1999C>T | NP_001257376.1:p.Arg667Trp | |
| NM_001270448.1:c.1702C>T | NP_001257377.1:p.Arg568Trp | |
| XM_006721516.2:c.1951C>T | XP_006721579.2:p.Arg651Trp | |
| XM_011523829.1:c.1849C>T | XP_011522131.1:p.Arg617Trp | |
| XM_011523830.1:c.1828C>T | XP_011522132.1:p.Arg610Trp | |
| XR_934021.1:n.2033C>T | ||
| XR_934022.1:n.1939C>T | ||
| XR_934023.1:n.1960C>T | ||
| XM_006721516.3:c.1951C>T | XP_006721579.2:p.Arg651Trp | |
| XM_011523829.2:c.1849C>T | XP_011522131.1:p.Arg617Trp | |
| XM_011523830.2:c.1828C>T | XP_011522132.1:p.Arg610Trp | |
| XM_024450741.1:c.1918C>T | XP_024306509.1:p.Arg640Trp | |
| XR_934021.2:n.1985C>T | ||
| XR_934022.2:n.1891C>T | ||
| XR_934023.2:n.1912C>T | ||
| NM_000018.4:c.1930C>T MANE Select | NP_000009.1:p.Arg644Trp | |
| NM_001033859.3:c.1864C>T | NP_001029031.1:p.Arg622Trp | |
| NM_001270447.2:c.1999C>T | NP_001257376.1:p.Arg667Trp | |
| NM_001270448.2:c.1702C>T | NP_001257377.1:p.Arg568Trp |