Linked Data
ClinVar Variation Id:
97359
ClinVar RCV Id:
RCV000083608
dbSNP Id:
rs67501347
PubMed:
PMID:11793483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411908C>A , CM000685.2:g.38411908C>A | GRCh38 |
| NC_000023.10:g.38271161C>A , CM000685.1:g.38271161C>A | GRCh37 |
| NC_000023.9:g.38156105C>A | NCBI36 |
| NG_008471.1:g.64426C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.914C>A MANE Select | ENSP00000039007.4:p.Pro305His | |
| ENST00000643344.1:c.*664C>A | ENSP00000496606.1:n.*664C>A | |
| ENST00000039007.4:c.914C>A | ENSP00000039007.4:p.Pro305His | |
| ENST00000465127.1:c.172-254213C>A | ENSP00000417050.1:n.172-254213C>A | |
| NM_000531.5:c.914C>A | NP_000522.3:p.Pro305His | |
| NM_000531.6:c.914C>A MANE Select | NP_000522.3:p.Pro305His |