Linked Data
ClinVar Variation Id:
160365
ClinVar RCV Id:
RCV000148034
dbSNP Id:
rs606231308
PubMed:
PMID:24781754
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45955212A>T , CM000668.2:g.45955212A>T | GRCh38 |
| NC_000006.11:g.45922949A>T , CM000668.1:g.45922949A>T | GRCh37 |
| NC_000006.10:g.46030927A>T | NCBI36 |
| NG_031965.1:g.130137T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000185206.12:c.573T>A | ENSP00000185206.6:p.Cys191Ter | |
| ENST00000339561.12:c.96T>A MANE Select | ENSP00000344165.6:p.Cys32Ter | |
| ENST00000544153.3:c.96T>A | ENSP00000439195.1:p.Cys32Ter | |
| ENST00000642250.1:c.96T>A | ENSP00000496359.1:p.Cys32Ter | |
| ENST00000644324.1:c.96T>A | ENSP00000495186.1:p.Cys32Ter | |
| ENST00000644878.1:c.96T>A | ENSP00000493894.1:p.Cys32Ter | |
| ENST00000672327.1:c.96T>A | ENSP00000500472.1:p.Cys32Ter | |
| ENST00000185206.10:c.573T>A | ENSP00000185206.6:p.Cys191Ter | |
| ENST00000339561.10:c.96T>A | ENSP00000344165.6:p.Cys32Ter | |
| ENST00000544153.2:c.96T>A | ENSP00000439195.1:p.Cys32Ter | |
| NM_001114086.1:c.573T>A | NP_001107558.1:p.Cys191Ter | |
| NM_001256023.1:c.96T>A | NP_001242952.1:p.Cys32Ter | |
| NM_016929.4:c.96T>A | NP_058625.2:p.Cys32Ter | |
| XM_011514692.1:c.573T>A | XP_011512994.1:p.Cys191Ter | |
| XM_011514693.1:c.573T>A | XP_011512995.1:p.Cys191Ter | |
| XM_011514694.1:c.573T>A | XP_011512996.1:p.Cys191Ter | |
| XM_011514695.1:c.-22T>A | XP_011512997.1:n.-22T>A | |
| XR_926257.1:n.618T>A | ||
| XR_926258.1:n.618T>A | ||
| XR_926259.1:n.618T>A | ||
| XM_011514692.3:c.573T>A | XP_011512994.1:p.Cys191Ter | |
| XM_011514694.3:c.573T>A | XP_011512996.1:p.Cys191Ter | |
| XM_017010953.1:c.573T>A | XP_016866442.1:p.Cys191Ter | |
| XR_926258.3:n.686T>A | ||
| NM_001114086.2:c.573T>A | NP_001107558.1:p.Cys191Ter | |
| NM_001370649.1:c.-22T>A | NP_001357578.1:n.-22T>A | |
| NM_001370650.1:c.573T>A | NP_001357579.1:p.Cys191Ter | |
| NM_016929.5:c.96T>A MANE Select | NP_058625.2:p.Cys32Ter | |
| NM_001256023.2:c.96T>A | NP_001242952.1:p.Cys32Ter |