Linked Data
ClinVar Variation Id:
284904
dbSNP Id:
rs144689354
ExAC:
2:25466800 G / A
gnomAD v2:
2-25466800-G-A
gnomAD v3:
2-25243931-G-A
gnomAD v4:
2-25243931-G-A
PubMed:
PMID:27525107
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25243931G>A , CM000664.2:g.25243931G>A | GRCh38 |
| NC_000002.11:g.25466800G>A , CM000664.1:g.25466800G>A | GRCh37 |
| NC_000002.10:g.25320304G>A | NCBI36 |
| NG_029465.2:g.103660C>T , LRG_459:g.103660C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474887.6:c.222C>T | ||
| ENST00000683393.1:c.1049C>T | ENSP00000508654.1:n.1049C>T | |
| ENST00000683760.1:c.1234C>T | ENSP00000507765.1:p.Arg412Trp | |
| ENST00000321117.10:c.1903C>T MANE Select | ENSP00000324375.5:p.Arg635Trp | |
| ENST00000264709.7:c.1903C>T | ENSP00000264709.3:p.Arg635Trp | |
| ENST00000321117.9:c.1903C>T | ENSP00000324375.5:p.Arg635Trp | |
| ENST00000380746.8:c.1336C>T | ENSP00000370122.4:p.Arg446Trp | |
| ENST00000380756.7:c.1903C>T | ENSP00000370132.3:p.Arg635Trp | |
| ENST00000402667.1:c.1234C>T | ENSP00000384237.1:p.Arg412Trp | |
| ENST00000461228.1:n.52C>T | ||
| ENST00000474887.5:n.222C>T | ||
| ENST00000482935.5:n.49C>T | ||
| ENST00000491288.5:n.40C>T | ||
| NM_022552.4:c.1903C>T , LRG_459t1:c.1903C>T | NP_072046.2:p.Arg635Trp | |
| NM_153759.3:c.1336C>T , LRG_459t2:c.1336C>T | NP_715640.2:p.Arg446Trp | |
| NM_175629.2:c.1903C>T , LRG_459t4:c.1903C>T | NP_783328.1:p.Arg635Trp | |
| XM_005264175.3:c.1903C>T | XP_005264232.1:p.Arg635Trp | |
| XM_005264177.3:c.1234C>T | XP_005264234.1:p.Arg412Trp | |
| XM_006711957.2:c.1903C>T | XP_006712020.1:p.Arg635Trp | |
| XM_006711958.2:c.1459C>T | XP_006712021.1:p.Arg487Trp | |
| XM_011532662.1:c.1756C>T | XP_011530964.1:p.Arg586Trp | |
| XM_011532663.1:c.1738C>T | XP_011530965.1:p.Arg580Trp | |
| XM_011532664.1:c.1903C>T | XP_011530966.1:p.Arg635Trp | |
| XM_011532665.1:c.1447C>T | XP_011530967.1:p.Arg483Trp | |
| XM_011532666.1:c.1375C>T | XP_011530968.1:p.Arg459Trp | |
| XM_011532667.1:c.1234C>T | XP_011530969.1:p.Arg412Trp | |
| XM_011532668.1:c.1903C>T | XP_011530970.1:p.Arg635Trp | |
| NM_001320893.1:c.1447C>T | NP_001307822.1:p.Arg483Trp | |
| NR_135490.1:n.2241C>T | ||
| XM_005264175.5:c.1903C>T | XP_005264232.1:p.Arg635Trp | |
| XM_005264177.4:c.1234C>T | XP_005264234.1:p.Arg412Trp | |
| XM_011532662.2:c.1756C>T | XP_011530964.1:p.Arg586Trp | |
| XM_011532663.2:c.1738C>T | XP_011530965.1:p.Arg580Trp | |
| XM_011532664.2:c.1903C>T | XP_011530966.1:p.Arg635Trp | |
| XM_011532666.2:c.1375C>T | XP_011530968.1:p.Arg459Trp | |
| XM_011532667.3:c.1234C>T | XP_011530969.1:p.Arg412Trp | |
| XM_017003526.1:c.1903C>T | XP_016859015.1:p.Arg635Trp | |
| XM_017003527.1:c.1234C>T | XP_016859016.1:p.Arg412Trp | |
| XR_001738657.1:n.2180C>T | ||
| NM_001375819.1:c.1234C>T | NP_001362748.1:p.Arg412Trp | |
| NR_135490.2:n.2134C>T | ||
| NM_022552.5:c.1903C>T MANE Select | NP_072046.2:p.Arg635Trp |