Linked Data
ClinVar Variation Id:
14377
ClinVar RCV Id:
RCV004555835
dbSNP Id:
rs121913549
PubMed:
PMID:12675840
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69350194T>A , CM000674.2:g.69350194T>A | GRCh38 |
| NC_000012.11:g.69743974T>A , CM000674.1:g.69743974T>A | GRCh37 |
| NC_000012.10:g.68030241T>A | NCBI36 |
| NG_008195.1:g.6841T>A , LRG_768:g.6841T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.223T>A MANE Select | ENSP00000261267.2:p.Phe75Ile | |
| ENST00000261267.6:c.223T>A | ENSP00000261267.2:p.Phe75Ile | |
| ENST00000548839.1:c.223T>A | ENSP00000449969.1:p.Phe75Ile | |
| ENST00000549690.1:c.223T>A | ENSP00000449898.1:p.Phe75Ile | |
| NM_000239.2:c.223T>A , LRG_768t1:c.223T>A | NP_000230.1:p.Phe75Ile | |
| NM_000239.3:c.223T>A MANE Select | NP_000230.1:p.Phe75Ile |