Linked Data
ClinVar Variation Id:
2203111
ClinVar RCV Id:
RCV002634383
dbSNP Id:
rs144699669
ExAC:
2:85786166 G / A
gnomAD v2:
2-85786166-G-A
gnomAD v3:
2-85559043-G-A
gnomAD v4:
2-85559043-G-A
COSMIC:
COSM1409793
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85559043G>A , CM000664.2:g.85559043G>A | GRCh38 |
| NC_000002.11:g.85786166G>A , CM000664.1:g.85786166G>A | GRCh37 |
| NC_000002.10:g.85639677G>A | NCBI36 |
| NG_011811.2:g.7492C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.33C>T | ||
| ENST00000482662.2:n.314C>T | ||
| ENST00000496962.2:c.247C>T | ENSP00000508856.1:p.Arg83Trp | |
| ENST00000685865.1:n.339C>T | ||
| ENST00000687250.1:n.350C>T | ||
| ENST00000687995.1:n.288C>T | ||
| ENST00000688205.1:c.247C>T | ENSP00000509673.1:p.Arg83Trp | |
| ENST00000688788.1:n.339C>T | ||
| ENST00000689276.1:c.247C>T | ENSP00000510012.1:p.Arg83Trp | |
| ENST00000689576.1:c.247C>T | ENSP00000508712.1:p.Arg83Trp | |
| ENST00000690108.1:c.247C>T | ENSP00000510617.1:p.Arg83Trp | |
| ENST00000690468.1:c.76C>T | ENSP00000509078.1:p.Arg26Trp | |
| ENST00000690595.1:c.214+1772C>T | ENSP00000508979.1:n.214+1772C>T | |
| ENST00000691348.1:c.76C>T | ENSP00000509369.1:p.Arg26Trp | |
| ENST00000691410.1:c.247C>T | ENSP00000508479.1:p.Arg83Trp | |
| ENST00000693287.1:c.-67+2343C>T | ENSP00000510264.1:n.-67+2343C>T | |
| ENST00000693681.1:c.76C>T | ENSP00000510789.1:p.Arg26Trp | |
| ENST00000233838.9:c.247C>T MANE Select | ENSP00000233838.3:p.Arg83Trp | |
| ENST00000233838.8:c.247C>T | ENSP00000233838.3:p.Arg83Trp | |
| ENST00000421496.5:c.76C>T | ENSP00000400384.1:p.Arg26Trp | |
| ENST00000423570.5:c.247C>T | ENSP00000389426.1:p.Arg83Trp | |
| ENST00000428479.3:c.76C>T | ENSP00000390748.3:p.Arg26Trp | |
| ENST00000430215.7:c.76C>T | ENSP00000408045.3:p.Arg26Trp | |
| ENST00000465637.5:n.141C>T | ||
| ENST00000481541.1:n.141C>T | ||
| ENST00000496962.1:n.366C>T | ||
| NM_000821.5:c.247C>T | NP_000812.2:p.Arg83Trp | |
| NM_000821.6:c.247C>T | NP_000812.2:p.Arg83Trp | |
| NM_001142269.2:c.76C>T | NP_001135741.1:p.Arg26Trp | |
| NM_001142269.3:c.76C>T | NP_001135741.1:p.Arg26Trp | |
| NM_001311312.1:c.247C>T | NP_001298241.1:p.Arg83Trp | |
| XM_005264259.3:c.247C>T | XP_005264316.1:p.Arg83Trp | |
| XM_011532764.1:c.-412C>T | XP_011531066.1:n.-412C>T | |
| XM_011532765.1:c.-412C>T | XP_011531067.1:n.-412C>T | |
| XR_939677.1:n.312C>T | ||
| XM_005264259.5:c.247C>T | XP_005264316.1:p.Arg83Trp | |
| XM_011532764.3:c.-412C>T | XP_011531066.1:n.-412C>T | |
| XM_011532765.3:c.-412C>T | XP_011531067.1:n.-412C>T | |
| XM_017003803.2:c.76C>T | XP_016859292.1:p.Arg26Trp | |
| XR_001738703.2:n.312C>T | ||
| NM_000821.7:c.247C>T MANE Select | NP_000812.2:p.Arg83Trp | |
| NM_001142269.4:c.76C>T | NP_001135741.1:p.Arg26Trp | |
| NM_001311312.2:c.247C>T | NP_001298241.1:p.Arg83Trp |