Linked Data
ClinVar Variation Id:
126560
ClinVar RCV Id:
RCV000114429
dbSNP Id:
rs768943773
gnomAD v2:
1-154571033-G-A
gnomAD v3:
1-154598557-G-A
gnomAD v4:
1-154598557-G-A
PubMed:
PMID:24262145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154598557G>A , CM000663.2:g.154598557G>A | GRCh38 |
| NC_000001.10:g.154571033G>A , CM000663.1:g.154571033G>A | GRCh37 |
| NC_000001.9:g.152837657G>A | NCBI36 |
| NG_011844.1:g.34405C>T | |
| NG_011844.2:g.38004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649042.2:c.1524C>T | ENSP00000497790.2:n.1524C>T | |
| ENST00000649724.2:c.1660C>T | ENSP00000497932.2:p.Arg554Ter | |
| ENST00000680270.2:c.1513C>T | ENSP00000505532.2:p.Arg505Ter | |
| ENST00000681056.2:c.1282C>T | ENSP00000506234.2:p.Arg428Ter | |
| ENST00000368471.8:c.745C>T | ENSP00000357456.3:p.Arg249Ter | |
| ENST00000368474.9:c.1630C>T MANE Select | ENSP00000357459.4:p.Arg544Ter | |
| ENST00000529168.2:c.1630C>T | ENSP00000431794.2:p.Arg544Ter | |
| ENST00000647682.2:n.1360C>T | ||
| ENST00000648231.2:c.745C>T | ENSP00000497555.1:p.Arg249Ter | |
| ENST00000648311.1:c.745C>T | ENSP00000498137.1:p.Arg249Ter | |
| ENST00000648714.2:c.1630C>T | ENSP00000497434.2:p.Arg544Ter | |
| ENST00000648871.1:c.745C>T | ENSP00000497793.1:p.Arg249Ter | |
| ENST00000649021.1:n.1666C>T | ||
| ENST00000649022.2:c.745C>T | ENSP00000496896.2:p.Arg249Ter | |
| ENST00000649042.1:c.745C>T | ENSP00000497790.1:p.Arg249Ter | |
| ENST00000649408.2:c.1630C>T | ENSP00000497386.2:p.Arg544Ter | |
| ENST00000649724.1:c.745C>T | ENSP00000497932.1:p.Arg249Ter | |
| ENST00000649749.1:c.745C>T | ENSP00000497210.1:p.Arg249Ter | |
| ENST00000679375.1:c.732C>T | ENSP00000505887.1:p.Ala244= | |
| ENST00000679465.1:n.1828C>T | ||
| ENST00000679805.1:n.1666C>T | ||
| ENST00000679899.1:c.745C>T | ENSP00000505996.1:p.Arg249Ter | |
| ENST00000680270.1:c.745C>T | ENSP00000505532.1:p.Arg249Ter | |
| ENST00000680305.1:c.1630C>T | ENSP00000506312.1:p.Arg544Ter | |
| ENST00000681056.1:c.745C>T | ENSP00000506234.1:p.Arg249Ter | |
| ENST00000681235.1:c.*1230C>T | ENSP00000506606.1:n.*1230C>T | |
| ENST00000681429.1:n.890C>T | ||
| ENST00000681683.1:c.745C>T | ENSP00000506666.1:p.Arg249Ter | |
| ENST00000681786.1:n.1828C>T | ||
| ENST00000681901.1:c.*1230C>T | ENSP00000504883.1:n.*1230C>T | |
| ENST00000368471.7:c.745C>T | ENSP00000357456.3:p.Arg249Ter | |
| ENST00000368474.8:c.1630C>T | ENSP00000357459.4:p.Arg544Ter | |
| ENST00000529168.1:c.1615C>T | ENSP00000431794.1:p.Arg539Ter | |
| NM_001025107.2:c.745C>T | NP_001020278.1:p.Arg249Ter | |
| NM_001111.4:c.1630C>T | NP_001102.2:p.Arg544Ter | |
| NM_001193495.1:c.745C>T | NP_001180424.1:p.Arg249Ter | |
| NM_015840.3:c.1630C>T | NP_056655.2:p.Arg544Ter | |
| NM_015841.3:c.1630C>T | NP_056656.2:p.Arg544Ter | |
| XM_006711109.1:c.1660C>T | XP_006711172.1:p.Arg554Ter | |
| XM_006711111.2:c.745C>T | XP_006711174.1:p.Arg249Ter | |
| XM_006711112.1:c.745C>T | XP_006711175.1:p.Arg249Ter | |
| XM_006711113.1:c.745C>T | XP_006711176.1:p.Arg249Ter | |
| XM_011509060.1:c.1759C>T | XP_011507362.1:p.Arg587Ter | |
| XM_011509061.1:c.1759C>T | XP_011507363.1:p.Arg587Ter | |
| XM_011509062.1:c.1648C>T | XP_011507364.1:p.Arg550Ter | |
| NM_001025107.3:c.745C>T | NP_001020278.1:p.Arg249Ter | |
| NM_001111.5:c.1630C>T MANE Select | NP_001102.3:p.Arg544Ter | |
| NM_001193495.2:c.745C>T | NP_001180424.1:p.Arg249Ter | |
| NM_001365045.1:c.1657C>T | NP_001351974.1:p.Arg553Ter | |
| NM_001365046.1:c.745C>T | NP_001351975.1:p.Arg249Ter | |
| NM_001365047.1:c.745C>T | NP_001351976.1:p.Arg249Ter | |
| NM_001365048.1:c.745C>T | NP_001351977.1:p.Arg249Ter | |
| NM_001365049.1:c.745C>T | NP_001351978.1:p.Arg249Ter | |
| NM_015840.4:c.1630C>T | NP_056655.3:p.Arg544Ter | |
| NM_015841.4:c.1630C>T | NP_056656.3:p.Arg544Ter | |
| XM_006711113.2:c.745C>T | XP_006711176.1:p.Arg249Ter | |
| XM_011509061.2:c.745C>T | XP_011507363.2:p.Arg249Ter | |
| XM_024449674.1:c.1759C>T | XP_024305442.1:p.Arg587Ter |