Linked Data
ClinVar Variation Id:
98866
ClinVar RCV Id:
RCV000085195
RCV000538669
RCV000986332
RCV001275332
RCV002490740
RCV003242981
RCV003888467
RCV003764794
dbSNP Id:
rs61752877
ExAC:
1:68910339 G / A
gnomAD v2:
1-68910339-G-A
gnomAD v3:
1-68444656-G-A
gnomAD v4:
1-68444656-G-A
ERepo:
CA226545/MONDO:0100368/120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444656G>A , CM000663.2:g.68444656G>A | GRCh38 |
| NC_000001.10:g.68910339G>A , CM000663.1:g.68910339G>A | GRCh37 |
| NC_000001.9:g.68682927G>A | NCBI36 |
| NG_008472.1:g.10304C>T | |
| NG_008472.2:g.10304C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.370C>T MANE Select | ENSP00000262340.5:p.Arg124Ter | |
| ENST00000262340.5:c.370C>T | ENSP00000262340.5:p.Arg124Ter | |
| NM_000329.2:c.370C>T | NP_000320.1:p.Arg124Ter | |
| XM_017002027.1:c.94C>T | XP_016857516.1:p.Arg32Ter | |
| NM_000329.3:c.370C>T MANE Select | NP_000320.1:p.Arg124Ter |