Linked Data
ClinVar Variation Id:
932836
ClinVar RCV Id:
RCV001200790
dbSNP Id:
rs2071404265
gnomAD v4:
17-7224875-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224875G>A , CM000679.2:g.7224875G>A | GRCh38 |
| NC_000017.10:g.7128194G>A , CM000679.1:g.7128194G>A | GRCh37 |
| NC_000017.9:g.7068918G>A | NCBI36 |
| NG_007975.1:g.10042G>A | |
| NG_008391.2:g.176C>T | |
| NG_033038.1:g.14670C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1818G>A MANE Select | ENSP00000349297.5:p.Trp606Ter | |
| ENST00000322910.9:c.*1773G>A | ENSP00000325395.5:n.*1773G>A | |
| ENST00000350303.9:c.1752G>A | ENSP00000344152.5:p.Trp584Ter | |
| ENST00000356839.9:c.1818G>A | ENSP00000349297.5:p.Trp606Ter | |
| ENST00000542255.6:c.697G>A | ||
| ENST00000543245.6:c.1887G>A | ENSP00000438689.2:p.Trp629Ter | |
| ENST00000578033.1:n.243G>A | ||
| ENST00000578319.5:n.399G>A | ||
| ENST00000578711.1:n.1371G>A | ||
| ENST00000578809.5:n.390G>A | ||
| ENST00000579425.5:n.934G>A | ||
| ENST00000579546.1:c.553G>A | ||
| ENST00000583848.5:c.184G>A | ENSP00000466487.1:n.184G>A | |
| ENST00000583850.5:n.589G>A | ||
| ENST00000583858.5:c.749G>A | ||
| NM_000018.3:c.1818G>A | NP_000009.1:p.Trp606Ter | |
| NM_001033859.2:c.1752G>A | NP_001029031.1:p.Trp584Ter | |
| NM_001270447.1:c.1887G>A | NP_001257376.1:p.Trp629Ter | |
| NM_001270448.1:c.1590G>A | NP_001257377.1:p.Trp530Ter | |
| XM_006721516.2:c.1839G>A | XP_006721579.2:p.Trp613Ter | |
| XM_011523829.1:c.1737G>A | XP_011522131.1:p.Trp579Ter | |
| XM_011523830.1:c.1716G>A | XP_011522132.1:p.Trp572Ter | |
| XR_934021.1:n.1921G>A | ||
| XR_934022.1:n.1827G>A | ||
| XR_934023.1:n.1848G>A | ||
| XM_006721516.3:c.1839G>A | XP_006721579.2:p.Trp613Ter | |
| XM_011523829.2:c.1737G>A | XP_011522131.1:p.Trp579Ter | |
| XM_011523830.2:c.1716G>A | XP_011522132.1:p.Trp572Ter | |
| XM_024450741.1:c.1806G>A | XP_024306509.1:p.Trp602Ter | |
| XR_934021.2:n.1873G>A | ||
| XR_934022.2:n.1779G>A | ||
| XR_934023.2:n.1800G>A | ||
| NM_000018.4:c.1818G>A MANE Select | NP_000009.1:p.Trp606Ter | |
| NM_001033859.3:c.1752G>A | NP_001029031.1:p.Trp584Ter | |
| NM_001270447.2:c.1887G>A | NP_001257376.1:p.Trp629Ter | |
| NM_001270448.2:c.1590G>A | NP_001257377.1:p.Trp530Ter |