Linked Data
ClinVar Variation Id:
9271
ClinVar RCV Id:
RCV000009853
dbSNP Id:
rs104894433
PubMed:
PMID:7730309
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54902402G>A , CM000676.2:g.54902402G>A | GRCh38 |
| NC_000014.8:g.55369120G>A , CM000676.1:g.55369120G>A | GRCh37 |
| NC_000014.7:g.54438870G>A | NCBI36 |
| NG_008647.1:g.5423C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000491895.7:c.262C>T MANE Select | ENSP00000419045.2:p.Arg88Trp | |
| ENST00000254299.8:n.410C>T | ||
| ENST00000395514.5:c.262C>T | ENSP00000378890.1:p.Arg88Trp | |
| ENST00000395521.6:n.45C>T | ||
| ENST00000491895.6:c.262C>T | ENSP00000419045.2:p.Arg88Trp | |
| ENST00000536224.2:c.262C>T | ENSP00000445246.2:p.Arg88Trp | |
| ENST00000543643.6:c.262C>T | ENSP00000444011.2:p.Arg88Trp | |
| ENST00000622544.4:c.262C>T | ENSP00000477796.1:p.Arg88Trp | |
| NM_000161.2:c.262C>T | NP_000152.1:p.Arg88Trp | |
| NM_001024024.1:c.262C>T | NP_001019195.1:p.Arg88Trp | |
| NM_001024070.1:c.262C>T | NP_001019241.1:p.Arg88Trp | |
| NM_001024071.1:c.262C>T | NP_001019242.1:p.Arg88Trp | |
| XM_005267530.1:c.262C>T | XP_005267587.1:p.Arg88Trp | |
| XM_011536643.1:c.262C>T | XP_011534945.1:p.Arg88Trp | |
| NM_000161.3:c.262C>T MANE Select | NP_000152.1:p.Arg88Trp | |
| NM_001024070.2:c.262C>T | NP_001019241.1:p.Arg88Trp | |
| NM_001024071.2:c.262C>T | NP_001019242.1:p.Arg88Trp | |
| NM_001024024.2:c.262C>T | NP_001019195.1:p.Arg88Trp |