Linked Data
ClinVar Variation Id:
16840
ClinVar RCV Id:
RCV000018334
dbSNP Id:
rs121912994
PubMed:
PMID:11841538
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7574786T>A , CM000668.2:g.7574786T>A | GRCh38 |
| NC_000006.11:g.7575019T>A , CM000668.1:g.7575019T>A | GRCh37 |
| NC_000006.10:g.7520018T>A | NCBI36 |
| NG_008803.1:g.38150T>A , LRG_423:g.38150T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710359.1:c.2427T>A | ENSP00000518230.1:p.Cys809Ter | |
| ENST00000684395.1:n.1068T>A | ||
| ENST00000379802.8:c.2427T>A MANE Select | ENSP00000369129.3:p.Cys809Ter | |
| ENST00000379802.7:c.2427T>A | ENSP00000369129.3:p.Cys809Ter | |
| ENST00000418664.2:c.2427T>A | ENSP00000396591.2:p.Cys809Ter | |
| NM_001008844.1:c.2427T>A | NP_001008844.1:p.Cys809Ter | |
| NM_004415.2:c.2427T>A , LRG_423t1:c.2427T>A | NP_004406.2:p.Cys809Ter | |
| XM_011514323.1:c.2427T>A | XP_011512625.1:p.Cys809Ter | |
| NM_001008844.2:c.2427T>A | NP_001008844.1:p.Cys809Ter | |
| NM_001319034.1:c.2427T>A | NP_001305963.1:p.Cys809Ter | |
| NM_004415.3:c.2427T>A | NP_004406.2:p.Cys809Ter | |
| NM_004415.4:c.2427T>A MANE Select | NP_004406.2:p.Cys809Ter | |
| NM_001008844.3:c.2427T>A | NP_001008844.1:p.Cys809Ter | |
| NM_001319034.2:c.2427T>A | NP_001305963.1:p.Cys809Ter |