Linked Data
ClinVar Variation Id:
374838
ClinVar RCV Id:
RCV000415569
dbSNP Id:
rs541217363
PubMed:
PMID:27270174
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27180259C>A , CM000671.2:g.27180259C>A | GRCh38 |
| NC_000009.11:g.27180257C>A , CM000671.1:g.27180257C>A | GRCh37 |
| NC_000009.10:g.27170257C>A | NCBI36 |
| NG_011828.1:g.76111C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380036.10:c.921C>A MANE Select | ENSP00000369375.4:p.Tyr307Ter | |
| ENST00000380036.8:c.921C>A | ENSP00000369375.4:p.Tyr307Ter | |
| ENST00000406359.8:c.902-3200C>A | ENSP00000383977.4:n.902-3200C>A | |
| ENST00000519080.1:c.461-3200C>A | ENSP00000428337.1:n.461-3200C>A | |
| ENST00000519097.5:c.590-3200C>A | ENSP00000430686.1:n.590-3200C>A | |
| ENST00000615002.4:c.902-3200C>A | ENSP00000480251.1:n.902-3200C>A | |
| NM_000459.4:c.921C>A | NP_000450.2:p.Tyr307Ter | |
| NM_001290077.1:c.902-3200C>A | NP_001277006.1:n.902-3200C>A | |
| NM_001290078.1:c.590-3200C>A | NP_001277007.1:n.590-3200C>A | |
| XM_005251561.1:c.921C>A | XP_005251618.1:p.Tyr307Ter | |
| XM_005251563.1:c.902-3200C>A | XP_005251620.1:n.902-3200C>A | |
| XM_005251561.2:c.921C>A | XP_005251618.1:p.Tyr307Ter | |
| XM_005251563.2:c.902-3200C>A | XP_005251620.1:n.902-3200C>A | |
| NM_000459.5:c.921C>A MANE Select | NP_000450.3:p.Tyr307Ter | |
| NM_001375475.1:c.921C>A | NP_001362404.1:p.Tyr307Ter | |
| NM_001375476.1:c.902-3200C>A | NP_001362405.1:n.902-3200C>A |