Linked Data
ClinVar Variation Id:
31116
ClinVar RCV Id:
RCV000024112
dbSNP Id:
rs387907112
PubMed:
PMID:21765412
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46997310C>T , CM000665.2:g.46997310C>T | GRCh38 |
| NC_000003.11:g.47038800C>T , CM000665.1:g.47038800C>T | GRCh37 |
| NC_000003.10:g.47013804C>T | NCBI36 |
| NG_031914.1:g.22628C>T , LRG_568:g.22628C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.2701C>T MANE Select | ENSP00000415034.2:p.Arg901Ter | |
| ENST00000651747.1:c.2599C>T | ENSP00000499216.1:p.Arg867Ter | |
| ENST00000652242.1:n.270C>T | ||
| ENST00000416683.5:c.1116C>T | ||
| ENST00000450053.7:c.2701C>T | ENSP00000415034.2:p.Arg901Ter | |
| NM_015175.2:c.2701C>T , LRG_568t1:c.2701C>T | NP_055990.1:p.Arg901Ter | |
| XM_005264992.2:c.2599C>T | XP_005265049.1:p.Arg867Ter | |
| XM_006713072.2:c.2620C>T | XP_006713135.1:p.Arg874Ter | |
| XM_011533532.1:c.2680C>T | XP_011531834.1:p.Arg894Ter | |
| XM_011533533.1:c.2701C>T | XP_011531835.1:p.Arg901Ter | |
| XM_011533534.1:c.2332C>T | XP_011531836.1:p.Arg778Ter | |
| XM_011533535.1:c.2161C>T | XP_011531837.1:p.Arg721Ter | |
| XM_011533536.1:c.2047C>T | XP_011531838.1:p.Arg683Ter | |
| XM_011533537.1:c.1609C>T | XP_011531839.1:p.Arg537Ter | |
| XR_940397.1:n.2877C>T | ||
| XR_940398.1:n.2877C>T | ||
| NM_001365116.1:c.2599C>T | NP_001352045.1:p.Arg867Ter | |
| XM_006713072.3:c.2620C>T | XP_006713135.1:p.Arg874Ter | |
| XM_011533533.2:c.2701C>T | XP_011531835.1:p.Arg901Ter | |
| XM_017006010.1:c.2701C>T | XP_016861499.1:p.Arg901Ter | |
| XM_017006011.1:c.2680C>T | XP_016861500.1:p.Arg894Ter | |
| XM_017006012.1:c.2620C>T | XP_016861501.1:p.Arg874Ter | |
| XM_017006013.1:c.2701C>T | XP_016861502.1:p.Arg901Ter | |
| XM_017006014.1:c.2599C>T | XP_016861503.1:p.Arg867Ter | |
| XM_017006015.1:c.2332C>T | XP_016861504.1:p.Arg778Ter | |
| XM_017006016.1:c.2161C>T | XP_016861505.1:p.Arg721Ter | |
| XR_940397.2:n.2877C>T | ||
| NM_001365116.2:c.2599C>T | NP_001352045.1:p.Arg867Ter | |
| NM_015175.3:c.2701C>T MANE Select | NP_055990.1:p.Arg901Ter |