Linked Data
ClinVar Variation Id:
161509
ClinVar RCV Id:
RCV000149043
dbSNP Id:
rs193920892
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24533712G>C , CM000668.2:g.24533712G>C | GRCh38 |
| NC_000006.11:g.24533940G>C , CM000668.1:g.24533940G>C | GRCh37 |
| NC_000006.10:g.24641919G>C | NCBI36 |
| NG_008161.1:g.43744G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1608G>C MANE Select | ENSP00000350191.3:p.Ter536Tyr | |
| ENST00000479394.2:n.723G>C | ||
| ENST00000672352.1:c.1227G>C | ENSP00000500876.1:p.Ter409Tyr | |
| ENST00000672652.1:c.1571G>C | ||
| ENST00000348925.2:c.1647G>C | ENSP00000314649.3:p.Ter549Tyr | |
| ENST00000357578.7:c.1608G>C | ENSP00000350191.3:p.Ter536Tyr | |
| ENST00000479394.1:n.723G>C | ||
| ENST00000491546.5:c.1524G>C | ENSP00000417687.1:p.Ter508Tyr | |
| ENST00000492697.1:n.374G>C | ||
| NM_001080.3:c.1608G>C MANE Select | NP_001071.1:p.Ter536Tyr | |
| NM_170740.1:c.1647G>C | NP_733936.1:p.Ter549Tyr | |
| NM_001368954.1:c.1464G>C | NP_001355883.1:p.Ter488Tyr |