Linked Data
ClinVar Variation Id:
98857
ClinVar RCV Id:
RCV000085186
RCV002247485
RCV003242980
RCV003764791
RCV001061074
RCV001275336
RCV001731373
dbSNP Id:
rs61752873
ExAC:
1:68910540 C / T
gnomAD v2:
1-68910540-C-T
gnomAD v3:
1-68444857-C-T
gnomAD v4:
1-68444857-C-T
ERepo:
CA226533/MONDO:0100368/120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444857C>T , CM000663.2:g.68444857C>T | GRCh38 |
| NC_000001.10:g.68910540C>T , CM000663.1:g.68910540C>T | GRCh37 |
| NC_000001.9:g.68683128C>T | NCBI36 |
| NG_008472.1:g.10103G>A | |
| NG_008472.2:g.10103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.272G>A MANE Select | ENSP00000262340.5:p.Arg91Gln | |
| ENST00000262340.5:c.272G>A | ENSP00000262340.5:p.Arg91Gln | |
| NM_000329.2:c.272G>A | NP_000320.1:p.Arg91Gln | |
| XM_017002027.1:c.-5G>A | XP_016857516.1:n.-5G>A | |
| NM_000329.3:c.272G>A MANE Select | NP_000320.1:p.Arg91Gln |