Linked Data
ClinVar Variation Id:
1467546
ClinVar RCV Id:
RCV001993436
dbSNP Id:
rs939363267
gnomAD v4:
22-50220578-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220578A>C , CM000684.2:g.50220578A>C | GRCh38 |
| NC_000022.10:g.50659007A>C , CM000684.1:g.50659007A>C | GRCh37 |
| NC_000022.9:g.49001134A>C | NCBI36 |
| NG_032160.1:g.29394T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3781T>G MANE Select | ENSP00000248846.5:p.Ser1261Ala | |
| ENST00000248846.9:c.3781T>G | ENSP00000248846.5:p.Ser1261Ala | |
| ENST00000439308.6:c.3781T>G | ENSP00000397387.2:p.Ser1261Ala | |
| ENST00000491449.5:n.2088T>G | ||
| ENST00000498611.5:n.3618-563T>G | ||
| NM_020461.3:c.3781T>G | NP_065194.2:p.Ser1261Ala | |
| XR_938347.1:n.4346T>G | ||
| XR_938348.1:n.3050-563T>G | ||
| XR_001755343.2:n.4350T>G | ||
| XR_001755344.2:n.4350T>G | ||
| XR_002958720.1:n.3054-563T>G | ||
| XR_938347.2:n.4350T>G | ||
| NM_020461.4:c.3781T>G MANE Select | NP_065194.3:p.Ser1261Ala |