Linked Data
ClinVar Variation Id:
370480
ClinVar RCV Id:
RCV000412097
dbSNP Id:
rs1057516519
gnomAD v4:
17-7223823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223823G>A , CM000679.2:g.7223823G>A | GRCh38 |
| NC_000017.10:g.7127142G>A , CM000679.1:g.7127142G>A | GRCh37 |
| NC_000017.9:g.7067866G>A | NCBI36 |
| NG_007975.1:g.8990G>A | |
| NG_008391.2:g.1228C>T | |
| NG_033038.1:g.15722C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1280G>A MANE Select | ENSP00000349297.5:p.Trp427Ter | |
| ENST00000322910.9:c.*1235G>A | ENSP00000325395.5:n.*1235G>A | |
| ENST00000350303.9:c.1214G>A | ENSP00000344152.5:p.Trp405Ter | |
| ENST00000356839.9:c.1280G>A | ENSP00000349297.5:p.Trp427Ter | |
| ENST00000542255.6:c.138G>A | ||
| ENST00000543245.6:c.1349G>A | ENSP00000438689.2:p.Trp450Ter | |
| ENST00000578579.2:n.451G>A | ||
| ENST00000578711.1:n.319G>A | ||
| ENST00000578824.5:n.696G>A | ||
| ENST00000579425.5:n.304G>A | ||
| ENST00000579546.1:c.117G>A | ||
| ENST00000583850.5:n.55G>A | ||
| ENST00000583858.5:c.309G>A | ||
| ENST00000585203.6:n.488G>A | ||
| NM_000018.3:c.1280G>A | NP_000009.1:p.Trp427Ter | |
| NM_001033859.2:c.1214G>A | NP_001029031.1:p.Trp405Ter | |
| NM_001270447.1:c.1349G>A | NP_001257376.1:p.Trp450Ter | |
| NM_001270448.1:c.1052G>A | NP_001257377.1:p.Trp351Ter | |
| XM_006721516.2:c.1280G>A | XP_006721579.2:p.Trp427Ter | |
| XM_011523829.1:c.1280G>A | XP_011522131.1:p.Trp427Ter | |
| XM_011523830.1:c.1280G>A | XP_011522132.1:p.Trp427Ter | |
| XR_934021.1:n.1387G>A | ||
| XR_934022.1:n.1387G>A | ||
| XR_934023.1:n.1387G>A | ||
| XM_006721516.3:c.1280G>A | XP_006721579.2:p.Trp427Ter | |
| XM_011523829.2:c.1280G>A | XP_011522131.1:p.Trp427Ter | |
| XM_011523830.2:c.1280G>A | XP_011522132.1:p.Trp427Ter | |
| XM_024450741.1:c.1280G>A | XP_024306509.1:p.Trp427Ter | |
| XR_934021.2:n.1339G>A | ||
| XR_934022.2:n.1339G>A | ||
| XR_934023.2:n.1339G>A | ||
| NM_000018.4:c.1280G>A MANE Select | NP_000009.1:p.Trp427Ter | |
| NM_001033859.3:c.1214G>A | NP_001029031.1:p.Trp405Ter | |
| NM_001270447.2:c.1349G>A | NP_001257376.1:p.Trp450Ter | |
| NM_001270448.2:c.1052G>A | NP_001257377.1:p.Trp351Ter |