Linked Data
ClinVar Variation Id:
16772
ClinVar RCV Id:
RCV000018260
dbSNP Id:
rs267607133
PubMed:
PMID:1651812
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40408007C>T , CM000679.2:g.40408007C>T | GRCh38 |
| NC_000017.10:g.38564259C>T , CM000679.1:g.38564259C>T | GRCh37 |
| NC_000017.9:g.35817785C>T | NCBI36 |
| NG_027678.1:g.14944G>A | |
| NG_027678.2:g.14944G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423485.6:c.1460G>A MANE Select | ENSP00000411532.1:p.Arg487Lys | |
| ENST00000423485.5:c.1460G>A | ENSP00000411532.1:p.Arg487Lys | |
| NM_001067.3:c.1460G>A | NP_001058.2:p.Arg487Lys | |
| XM_005257632.1:c.1424G>A | XP_005257689.1:p.Arg475Lys | |
| XM_011525165.1:c.1460G>A | XP_011523467.1:p.Arg487Lys | |
| XM_011525165.2:c.1460G>A | XP_011523467.1:p.Arg487Lys | |
| NM_001067.4:c.1460G>A MANE Select | NP_001058.2:p.Arg487Lys |