Linked Data
ClinVar Variation Id:
2106033
ClinVar RCV Id:
RCV003023751
dbSNP Id:
rs1337593836
gnomAD v2:
22-50658875-C-G
gnomAD v4:
22-50220446-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220446C>G , CM000684.2:g.50220446C>G | GRCh38 |
| NC_000022.10:g.50658875C>G , CM000684.1:g.50658875C>G | GRCh37 |
| NC_000022.9:g.49001002C>G | NCBI36 |
| NG_032160.1:g.29526G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3913G>C MANE Select | ENSP00000248846.5:p.Ala1305Pro | |
| ENST00000248846.9:c.3913G>C | ENSP00000248846.5:p.Ala1305Pro | |
| ENST00000439308.6:c.3913G>C | ENSP00000397387.2:p.Ala1305Pro | |
| ENST00000491449.5:n.2220G>C | ||
| ENST00000498611.5:n.3618-431G>C | ||
| NM_020461.3:c.3913G>C | NP_065194.2:p.Ala1305Pro | |
| XR_938347.1:n.4478G>C | ||
| XR_938348.1:n.3050-431G>C | ||
| XR_001755343.2:n.4482G>C | ||
| XR_001755344.2:n.4482G>C | ||
| XR_002958720.1:n.3054-431G>C | ||
| XR_938347.2:n.4482G>C | ||
| NM_020461.4:c.3913G>C MANE Select | NP_065194.3:p.Ala1305Pro |