Linked Data
dbSNP Id:
rs763595783
ExAC:
22:50659026 C / G
gnomAD v2:
22-50659026-C-G
gnomAD v4:
22-50220597-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220597C>G , CM000684.2:g.50220597C>G | GRCh38 |
| NC_000022.10:g.50659026C>G , CM000684.1:g.50659026C>G | GRCh37 |
| NC_000022.9:g.49001153C>G | NCBI36 |
| NG_032160.1:g.29375G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3762G>C MANE Select | ENSP00000248846.5:p.Glu1254Asp | |
| ENST00000248846.9:c.3762G>C | ENSP00000248846.5:p.Glu1254Asp | |
| ENST00000439308.6:c.3762G>C | ENSP00000397387.2:p.Glu1254Asp | |
| ENST00000491449.5:n.2069G>C | ||
| ENST00000498611.5:n.3618-582G>C | ||
| NM_020461.3:c.3762G>C | NP_065194.2:p.Glu1254Asp | |
| XR_938347.1:n.4327G>C | ||
| XR_938348.1:n.3050-582G>C | ||
| XR_001755343.2:n.4331G>C | ||
| XR_001755344.2:n.4331G>C | ||
| XR_002958720.1:n.3054-582G>C | ||
| XR_938347.2:n.4331G>C | ||
| NM_020461.4:c.3762G>C MANE Select | NP_065194.3:p.Glu1254Asp |