Linked Data
ClinVar Variation Id:
1073196
ClinVar RCV Id:
RCV001386116
dbSNP Id:
rs1303861168
gnomAD v4:
15-67236040-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67236040C>T , CM000677.2:g.67236040C>T | GRCh38 |
| NC_000015.9:g.67528378C>T , CM000677.1:g.67528378C>T | GRCh37 |
| NC_000015.8:g.65315432C>T | NCBI36 |
| NG_033007.1:g.24159G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261880.10:c.390G>A MANE Select | ENSP00000261880.5:p.Trp130Ter | |
| ENST00000261880.9:c.390G>A | ENSP00000261880.5:p.Trp130Ter | |
| ENST00000542650.5:c.63G>A | ENSP00000440735.1:p.Trp21Ter | |
| ENST00000558725.5:n.413G>A | ||
| ENST00000560362.1:c.63G>A | ENSP00000453059.1:p.Trp21Ter | |
| ENST00000561452.5:c.63G>A | ENSP00000453263.1:p.Trp21Ter | |
| NM_001271885.1:c.63G>A | NP_001258814.1:p.Trp21Ter | |
| NM_001271886.1:c.63G>A | NP_001258815.1:p.Trp21Ter | |
| NM_024666.4:c.390G>A | NP_078942.3:p.Trp130Ter | |
| XM_005254664.2:c.390G>A | XP_005254721.1:p.Trp130Ter | |
| XM_006720683.2:c.390G>A | XP_006720746.1:p.Trp130Ter | |
| XM_011522020.1:c.63G>A | XP_011520322.1:p.Trp21Ter | |
| XM_024450052.1:c.390G>A | XP_024305820.1:p.Trp130Ter | |
| XM_024450053.1:c.390G>A | XP_024305821.1:p.Trp130Ter | |
| NM_024666.5:c.390G>A MANE Select | NP_078942.3:p.Trp130Ter | |
| NM_001271885.2:c.63G>A | NP_001258814.1:p.Trp21Ter | |
| NM_001271886.2:c.63G>A | NP_001258815.1:p.Trp21Ter |