Linked Data
ClinVar Variation Id:
197828
dbSNP Id:
rs2275605
ExAC:
X:128957640 T / C
gnomAD v2:
X-128957640-T-C
gnomAD v3:
X-129823664-T-C
gnomAD v4:
X-129823664-T-C
COSMIC:
COSN26633793
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129823664T>C , CM000685.2:g.129823664T>C | GRCh38 |
| NC_000023.10:g.128957640T>C , CM000685.1:g.128957640T>C | GRCh37 |
| NC_000023.9:g.128785321T>C | NCBI36 |
| NG_021387.1:g.25271A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357166.11:c.487+15A>G MANE Select | ENSP00000349689.6:n.487+15A>G | |
| ENST00000357166.10:c.487+15A>G | ENSP00000349689.6:n.487+15A>G | |
| ENST00000371064.7:c.487+15A>G | ENSP00000360103.3:n.487+15A>G | |
| ENST00000406492.2:c.487+15A>G | ENSP00000383991.2:n.487+15A>G | |
| ENST00000433917.5:c.366+15A>G | ||
| ENST00000491039.1:n.110+15A>G | ||
| NM_001008222.2:c.487+15A>G | NP_001008223.1:n.487+15A>G | |
| NM_016032.3:c.487+15A>G | NP_057116.2:n.487+15A>G | |
| XM_011531347.1:c.487+15A>G | XP_011529649.1:n.487+15A>G | |
| XM_011531348.1:c.487+15A>G | XP_011529650.1:n.487+15A>G | |
| XM_011531348.3:c.487+15A>G | XP_011529650.1:n.487+15A>G | |
| XR_001755694.2:n.881+15A>G | ||
| NM_016032.4:c.487+15A>G MANE Select | NP_057116.2:n.487+15A>G | |
| NM_001008222.3:c.487+15A>G | NP_001008223.1:n.487+15A>G |