Linked Data
ClinVar Variation Id:
417745
ClinVar RCV Id:
RCV000477714
dbSNP Id:
rs1060505028
PubMed:
PMID:26740508
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3229927T>A , CM000666.2:g.3229927T>A | GRCh38 |
| NC_000004.11:g.3231654T>A , CM000666.1:g.3231654T>A | GRCh37 |
| NC_000004.10:g.3201452T>A | NCBI36 |
| NG_009378.1:g.160253T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355072.11:c.8150T>A MANE Select | ENSP00000347184.5:p.Phe2717Tyr | |
| ENST00000355072.10:c.8150T>A | ENSP00000347184.5:p.Phe2717Tyr | |
| ENST00000680239.1:c.7892T>A | ENSP00000506169.1:p.Phe2631Tyr | |
| ENST00000680360.1:c.*1357T>A | ENSP00000505014.1:n.*1357T>A | |
| ENST00000680956.1:c.7892T>A | ENSP00000506029.1:p.Phe2631Tyr | |
| ENST00000681528.1:c.7982T>A | ENSP00000506116.1:p.Phe2661Tyr | |
| ENST00000355072.9:c.8150T>A | ENSP00000347184.5:p.Phe2717Tyr | |
| ENST00000510626.5:n.9278T>A | ||
| ENST00000513806.1:n.204T>A | ||
| NM_002111.7:c.8156T>A | NP_002102.4:p.Phe2719Tyr | |
| NM_002111.8:c.8156T>A | NP_002102.4:p.Phe2719Tyr | |
| NM_001388492.1:c.8150T>A MANE Select | NP_001375421.1:p.Phe2717Tyr |