Linked Data
ClinVar Variation Id:
183397
ClinVar RCV Id:
RCV000162211
dbSNP Id:
rs786201013
PubMed:
PMID:24128419
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.200603922T>A , CM000663.2:g.200603922T>A | GRCh38 |
| NC_000001.10:g.200573050T>A , CM000663.1:g.200573050T>A | GRCh37 |
| NC_000001.9:g.198839673T>A | NCBI36 |
| NG_042074.1:g.21813A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367350.5:c.1780A>T MANE Select | ENSP00000356319.4:p.Arg594Ter | |
| ENST00000367350.4:c.1780A>T | ENSP00000356319.4:p.Arg594Ter | |
| ENST00000614960.4:c.1780A>T | ENSP00000483069.1:p.Arg594Ter | |
| NM_001305792.1:c.307A>T | NP_001292721.1:p.Arg103Ter | |
| NM_014875.2:c.1780A>T | NP_055690.1:p.Arg594Ter | |
| XM_011510230.1:c.1780A>T | XP_011508532.1:p.Arg594Ter | |
| XM_011510231.1:c.1780A>T | XP_011508533.1:p.Arg594Ter | |
| XM_011510232.1:c.1780A>T | XP_011508534.1:p.Arg594Ter | |
| XM_011510233.1:c.1696A>T | XP_011508535.1:p.Arg566Ter | |
| XM_011510234.1:c.1681A>T | XP_011508536.1:p.Arg561Ter | |
| XM_011510235.1:c.1408A>T | XP_011508537.1:p.Arg470Ter | |
| XM_011510236.1:c.307A>T | XP_011508538.1:p.Arg103Ter | |
| XM_011510231.2:c.1780A>T | XP_011508533.1:p.Arg594Ter | |
| XM_011510232.2:c.1780A>T | XP_011508534.1:p.Arg594Ter | |
| XM_011510233.2:c.1696A>T | XP_011508535.1:p.Arg566Ter | |
| XM_011510235.2:c.1408A>T | XP_011508537.1:p.Arg470Ter | |
| XM_017003005.1:c.1780A>T | XP_016858494.1:p.Arg594Ter | |
| XM_017003006.1:c.1651A>T | XP_016858495.1:p.Arg551Ter | |
| XM_017003007.1:c.1213A>T | XP_016858496.1:p.Arg405Ter | |
| NM_014875.3:c.1780A>T MANE Select | NP_055690.1:p.Arg594Ter |