Linked Data
ClinVar Variation Id:
98840
ClinVar RCV Id:
RCV000085166
RCV001250676
RCV001275338
RCV000701390
RCV001257816
RCV001808321
RCV004528783
dbSNP Id:
rs61751282
ExAC:
1:68912507 C / T
gnomAD v2:
1-68912507-C-T
gnomAD v3:
1-68446824-C-T
gnomAD v4:
1-68446824-C-T
COSMIC:
COSM911895
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68446824C>T , CM000663.2:g.68446824C>T | GRCh38 |
| NC_000001.10:g.68912507C>T , CM000663.1:g.68912507C>T | GRCh37 |
| NC_000001.9:g.68685095C>T | NCBI36 |
| NG_008472.1:g.8136G>A | |
| NG_008472.2:g.8136G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.131G>A MANE Select | ENSP00000262340.5:p.Arg44Gln | |
| ENST00000262340.5:c.131G>A | ENSP00000262340.5:p.Arg44Gln | |
| NM_000329.2:c.131G>A | NP_000320.1:p.Arg44Gln | |
| XM_017002027.1:c.-32+1800G>A | XP_016857516.1:n.-32+1800G>A | |
| NM_000329.3:c.131G>A MANE Select | NP_000320.1:p.Arg44Gln |