Linked Data
ClinVar Variation Id:
13115
ClinVar RCV Id:
RCV000013994
RCV000085184
RCV000527143
RCV000787698
RCV001250682
RCV001257818
RCV001073556
RCV001275337
RCV001095690
RCV001813981
dbSNP Id:
rs61752871
ExAC:
1:68910541 G / A
gnomAD v2:
1-68910541-G-A
gnomAD v3:
1-68444858-G-A
gnomAD v4:
1-68444858-G-A
ERepo:
CA226531/MONDO:0100368/120
PubMed:
PMID:9501220
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444858G>A , CM000663.2:g.68444858G>A | GRCh38 |
| NC_000001.10:g.68910541G>A , CM000663.1:g.68910541G>A | GRCh37 |
| NC_000001.9:g.68683129G>A | NCBI36 |
| NG_008472.1:g.10102C>T | |
| NG_008472.2:g.10102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.271C>T MANE Select | ENSP00000262340.5:p.Arg91Trp | |
| ENST00000262340.5:c.271C>T | ENSP00000262340.5:p.Arg91Trp | |
| NM_000329.2:c.271C>T | NP_000320.1:p.Arg91Trp | |
| XM_017002027.1:c.-6C>T | XP_016857516.1:n.-6C>T | |
| NM_000329.3:c.271C>T MANE Select | NP_000320.1:p.Arg91Trp |