Linked Data
ClinVar Variation Id:
10013
dbSNP Id:
rs137852517
ExAC:
X:8536293 G / A
gnomAD v2:
X-8536293-G-A
gnomAD v3:
X-8568252-G-A
gnomAD v4:
X-8568252-G-A
COSMIC:
COSM1126167
PubMed:
PMID:17054399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8568252G>A , CM000685.2:g.8568252G>A | GRCh38 |
| NC_000023.10:g.8536293G>A , CM000685.1:g.8536293G>A | GRCh37 |
| NC_000023.9:g.8496293G>A | NCBI36 |
| NG_007088.1:g.168935C>T | |
| NG_007088.2:g.168935C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262648.8:c.1187C>T MANE Select | ENSP00000262648.3:p.Ser396Leu | |
| ENST00000262648.7:c.1187C>T | ENSP00000262648.3:p.Ser396Leu | |
| ENST00000488294.1:n.277C>T | ||
| ENST00000619786.1:c.1184C>T | ENSP00000478734.1:p.Ser395Leu | |
| NM_000216.2:c.1187C>T | NP_000207.2:p.Ser396Leu | |
| XM_005274501.3:c.1187C>T | XP_005274558.1:p.Ser396Leu | |
| NM_000216.3:c.1187C>T | NP_000207.2:p.Ser396Leu | |
| XM_005274501.4:c.1187C>T | XP_005274558.1:p.Ser396Leu | |
| NM_000216.4:c.1187C>T MANE Select | NP_000207.2:p.Ser396Leu |