Linked Data
ClinVar Variation Id:
964319
ClinVar RCV Id:
RCV001238513
dbSNP Id:
rs121909355
gnomAD v2:
8-97157401-T-C
gnomAD v3:
8-96145173-T-C
gnomAD v4:
8-96145173-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145173T>C , CM000670.2:g.96145173T>C | GRCh38 |
| NC_000008.10:g.97157401T>C , CM000670.1:g.97157401T>C | GRCh37 |
| NC_000008.9:g.97226577T>C | NCBI36 |
| NG_008981.1:g.20620A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287020.7:c.758A>G MANE Select | ENSP00000287020.4:p.Gln253Arg | |
| ENST00000287020.6:c.758A>G | ENSP00000287020.4:p.Gln253Arg | |
| ENST00000620978.1:c.707-11A>G | ENSP00000480170.1:n.707-11A>G | |
| ENST00000621429.1:c.758A>G | ENSP00000483711.1:p.Gln253Arg | |
| NM_001001557.2:c.758A>G | NP_001001557.1:p.Gln253Arg | |
| XM_011517030.1:c.359A>G | XP_011515332.1:p.Gln120Arg | |
| NM_001001557.3:c.758A>G | NP_001001557.1:p.Gln253Arg | |
| NM_001001557.4:c.758A>G MANE Select | NP_001001557.1:p.Gln253Arg |