Linked Data
ClinVar Variation Id:
190238
ClinVar RCV Id:
RCV000170461
dbSNP Id:
rs375323253
ExAC:
11:613094 G / A
gnomAD v2:
11-613094-G-A
gnomAD v3:
11-613094-G-A
gnomAD v4:
11-613094-G-A
PubMed:
PMID:25814066
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.613094G>A , CM000673.2:g.613094G>A | GRCh38 |
| NC_000011.9:g.613094G>A , CM000673.1:g.613094G>A | GRCh37 |
| NC_000011.8:g.603094G>A | NCBI36 |
| NG_029106.1:g.7906C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348655.11:c.1174C>T | ENSP00000331803.9:p.Gln392Ter | |
| ENST00000469048.6:c.*540C>T | ENSP00000434607.1:n.*540C>T | |
| ENST00000525445.6:c.1261C>T MANE Select | ENSP00000434009.2:p.Gln421Ter | |
| ENST00000528413.6:c.1211C>T | ENSP00000497888.1:n.1211C>T | |
| ENST00000330243.9:c.1300C>T | ENSP00000329411.5:p.Gln434Ter | |
| ENST00000348655.10:c.1174C>T | ENSP00000331803.9:p.Gln392Ter | |
| ENST00000397566.5:c.1300C>T | ENSP00000380697.1:p.Gln434Ter | |
| ENST00000397570.5:c.1213C>T | ENSP00000380700.2:p.Gln405Ter | |
| ENST00000397574.6:c.1261C>T | ENSP00000380704.2:p.Gln421Ter | |
| ENST00000469048.5:c.*540C>T | ENSP00000434607.1:n.*540C>T | |
| ENST00000525445.5:c.943C>T | ENSP00000434009.1:p.Gln315Ter | |
| ENST00000528413.5:n.376C>T | ||
| ENST00000531912.1:n.498C>T | ||
| ENST00000532326.5:c.*387C>T | ENSP00000436696.1:n.*387C>T | |
| ENST00000533182.5:c.*625C>T | ENSP00000433903.1:n.*625C>T | |
| NM_001572.3:c.1261C>T | NP_001563.2:p.Gln421Ter | |
| NM_004029.2:c.1174C>T | NP_004020.1:p.Gln392Ter | |
| NM_004031.2:c.1300C>T | NP_004022.2:p.Gln434Ter | |
| XM_005252906.2:c.1300C>T | XP_005252963.1:p.Gln434Ter | |
| XM_005252907.2:c.1297C>T | XP_005252964.1:p.Gln433Ter | |
| XM_005252909.2:c.1213C>T | XP_005252966.1:p.Gln405Ter | |
| XM_011520066.1:c.1258C>T | XP_011518368.1:p.Gln420Ter | |
| NM_001572.4:c.1261C>T | NP_001563.2:p.Gln421Ter | |
| NM_004029.3:c.1174C>T | NP_004020.1:p.Gln392Ter | |
| NM_004031.3:c.1300C>T | NP_004022.2:p.Gln434Ter | |
| XM_005252907.3:c.1297C>T | XP_005252964.1:p.Gln433Ter | |
| XM_005252909.3:c.1213C>T | XP_005252966.1:p.Gln405Ter | |
| XM_011520066.3:c.1258C>T | XP_011518368.1:p.Gln420Ter | |
| XM_017017674.1:c.382C>T | XP_016873163.1:p.Gln128Ter | |
| NM_001572.5:c.1261C>T MANE Select | NP_001563.2:p.Gln421Ter | |
| NM_004029.4:c.1174C>T | NP_004020.1:p.Gln392Ter | |
| NM_004031.4:c.1300C>T | NP_004022.2:p.Gln434Ter |