Linked Data
ClinVar Variation Id:
8081
dbSNP Id:
rs121434489
gnomAD v4:
17-2638310-C-T
PubMed:
PMID:14581661
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2638310C>T , CM000679.2:g.2638310C>T | GRCh38 |
| NC_000017.10:g.2541604C>T , CM000679.1:g.2541604C>T | GRCh37 |
| NC_000017.9:g.2488354C>T | NCBI36 |
| NG_009799.1:g.49682C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397195.10:c.22C>T MANE Select | ENSP00000380378.4:p.Arg8Ter | |
| ENST00000674608.1:c.22C>T | ENSP00000501976.1:p.Arg8Ter | |
| ENST00000674717.1:c.-14C>T | ENSP00000501931.1:n.-14C>T | |
| ENST00000675202.1:c.22C>T | ENSP00000502843.1:p.Arg8Ter | |
| ENST00000675331.1:c.22C>T | ENSP00000502031.1:p.Arg8Ter | |
| ENST00000675390.1:c.22C>T | ENSP00000501969.1:p.Arg8Ter | |
| ENST00000675430.1:n.249C>T | ||
| ENST00000675621.1:c.22C>T | ENSP00000502117.1:p.Arg8Ter | |
| ENST00000675764.1:c.22C>T | ENSP00000502242.1:p.Arg8Ter | |
| ENST00000676077.1:c.-163-27062C>T | ENSP00000502507.1:n.-163-27062C>T | |
| ENST00000676098.1:c.22C>T | ENSP00000502735.1:p.Arg8Ter | |
| ENST00000676188.1:c.22C>T | ENSP00000502577.1:p.Arg8Ter | |
| ENST00000676201.1:n.261C>T | ||
| ENST00000676353.1:c.-89C>T | ENSP00000502737.1:n.-89C>T | |
| ENST00000676456.1:n.212C>T | ||
| ENST00000397195.9:c.22C>T | ENSP00000380378.4:p.Arg8Ter | |
| ENST00000570400.1:c.22C>T | ENSP00000460258.1:p.Arg8Ter | |
| ENST00000571289.1:n.251C>T | ||
| ENST00000572915.6:n.262C>T | ||
| ENST00000574816.5:n.30+28742C>T | ||
| ENST00000575477.5:n.609C>T | ||
| ENST00000576586.5:c.22C>T | ENSP00000461087.1:p.Arg8Ter | |
| NM_000430.3:c.22C>T | NP_000421.1:p.Arg8Ter | |
| XM_011523901.1:c.22C>T | XP_011522203.1:p.Arg8Ter | |
| XM_011523902.1:c.22C>T | XP_011522204.1:p.Arg8Ter | |
| XM_011523903.1:c.22C>T | XP_011522205.1:p.Arg8Ter | |
| XM_011523904.1:c.22C>T | XP_011522206.1:p.Arg8Ter | |
| XM_011523901.2:c.22C>T | XP_011522203.1:p.Arg8Ter | |
| XM_011523902.3:c.22C>T | XP_011522204.1:p.Arg8Ter | |
| XM_011523903.2:c.22C>T | XP_011522205.1:p.Arg8Ter | |
| XM_017024701.1:c.22C>T | XP_016880190.1:p.Arg8Ter | |
| XM_017024702.2:c.-89C>T | XP_016880191.1:n.-89C>T | |
| NM_000430.4:c.22C>T MANE Select | NP_000421.1:p.Arg8Ter |