Linked Data
ClinVar Variation Id:
97131
ClinVar RCV Id:
RCV000083360
dbSNP Id:
rs67752076
PubMed:
PMID:16786505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38352697A>T , CM000685.2:g.38352697A>T | GRCh38 |
| NC_000023.10:g.38211950A>T , CM000685.1:g.38211950A>T | GRCh37 |
| NC_000023.9:g.38096894A>T | NCBI36 |
| NG_008471.1:g.5215A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.1A>T MANE Select | ENSP00000039007.4:p.Met1Leu | |
| ENST00000643344.1:c.1A>T | ENSP00000496606.1:p.Met1Leu | |
| ENST00000039007.4:c.1A>T | ENSP00000039007.4:p.Met1Leu | |
| ENST00000465127.1:c.172-313424A>T | ENSP00000417050.1:n.172-313424A>T | |
| ENST00000488812.1:n.93A>T | ||
| NM_000531.5:c.1A>T | NP_000522.3:p.Met1Leu | |
| XM_017029556.1:c.1A>T | XP_016885045.1:p.Met1Leu | |
| NM_000531.6:c.1A>T MANE Select | NP_000522.3:p.Met1Leu |