Linked Data
ClinVar Variation Id:
211185
dbSNP Id:
rs199873582
ExAC:
9:139329253 C / T
gnomAD v2:
9-139329253-C-T
gnomAD v3:
9-136434801-C-T
gnomAD v4:
9-136434801-C-T
COSMIC:
COSM753174
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136434801C>T , CM000671.2:g.136434801C>T | GRCh38 |
| NC_000009.11:g.139329253C>T , CM000671.1:g.139329253C>T | GRCh37 |
| NC_000009.10:g.138449074C>T | NCBI36 |
| NG_016126.1:g.10004G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.875G>A MANE Select | ENSP00000360777.3:p.Arg292His | |
| ENST00000674513.1:n.146G>A | ||
| ENST00000675256.1:c.63G>A | ||
| ENST00000676019.1:c.875G>A | ENSP00000501984.1:p.Arg292His | |
| ENST00000371712.3:c.875G>A | ENSP00000360777.3:p.Arg292His | |
| NM_019892.4:c.875G>A | NP_063945.2:p.Arg292His | |
| XM_005266094.2:c.875G>A | XP_005266151.1:p.Arg292His | |
| XR_929828.1:n.1315G>A | ||
| NM_001318502.1:c.875G>A | NP_001305431.1:p.Arg292His | |
| NM_019892.5:c.875G>A | NP_063945.2:p.Arg292His | |
| XM_017014926.1:c.875G>A | XP_016870415.1:p.Arg292His | |
| XR_929828.2:n.1317G>A | ||
| NM_019892.6:c.875G>A MANE Select | NP_063945.2:p.Arg292His | |
| NM_001318502.2:c.875G>A | NP_001305431.1:p.Arg292His |