Linked Data
ClinVar Variation Id:
438007
ClinVar RCV Id:
RCV000504791
dbSNP Id:
rs745371873
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675216G>T , CM000663.2:g.215675216G>T | GRCh38 |
| NC_000001.10:g.215848558G>T , CM000663.1:g.215848558G>T | GRCh37 |
| NC_000001.9:g.213915181G>T | NCBI36 |
| NG_009497.1:g.753181C>A | |
| NG_009497.2:g.753233C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12695C>A MANE Select | ENSP00000305941.3:p.Pro4232Gln | |
| ENST00000674083.1:c.12695C>A | ENSP00000501296.1:p.Pro4232Gln | |
| ENST00000307340.7:c.12695C>A | ENSP00000305941.3:p.Pro4232Gln | |
| NM_206933.2:c.12695C>A | NP_996816.2:p.Pro4232Gln | |
| NM_206933.3:c.12695C>A | NP_996816.2:p.Pro4232Gln | |
| NM_206933.4:c.12695C>A MANE Select | NP_996816.3:p.Pro4232Gln |