Linked Data
ClinVar Variation Id:
161637
ClinVar RCV Id:
RCV000149173
dbSNP Id:
rs193920766
gnomAD v4:
6-170283568-G-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.170283568G>T , CM000668.2:g.170283568G>T | GRCh38 |
| NC_000006.11:g.170592656G>T , CM000668.1:g.170592656G>T | GRCh37 |
| NC_000006.10:g.170434581G>T | NCBI36 |
| NG_027940.1:g.12042C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366756.4:c.1711C>A MANE Select | ENSP00000355718.3:p.Leu571Met | |
| ENST00000366756.3:c.1711C>A | ENSP00000355718.3:p.Leu571Met | |
| NM_005618.3:c.1711C>A | NP_005609.3:p.Leu571Met | |
| XM_005266934.2:c.1451+260C>A | XP_005266991.1:n.1451+260C>A | |
| XM_011535758.1:c.1711C>A | XP_011534060.1:p.Leu571Met | |
| XM_005266934.4:c.1451+260C>A | XP_005266991.1:n.1451+260C>A | |
| NM_005618.4:c.1711C>A MANE Select | NP_005609.3:p.Leu571Met |