Linked Data
ClinVar Variation Id:
2182901
ClinVar RCV Id:
RCV002592256
dbSNP Id:
rs1215314321
gnomAD v2:
22-50659256-T-C
gnomAD v3:
22-50220827-T-C
gnomAD v4:
22-50220827-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220827T>C , CM000684.2:g.50220827T>C | GRCh38 |
| NC_000022.10:g.50659256T>C , CM000684.1:g.50659256T>C | GRCh37 |
| NC_000022.9:g.49001383T>C | NCBI36 |
| NG_032160.1:g.29145A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3532A>G MANE Select | ENSP00000248846.5:p.Met1178Val | |
| ENST00000248846.9:c.3532A>G | ENSP00000248846.5:p.Met1178Val | |
| ENST00000439308.6:c.3532A>G | ENSP00000397387.2:p.Met1178Val | |
| ENST00000491449.5:n.1839A>G | ||
| ENST00000498611.5:n.3617+448A>G | ||
| NM_020461.3:c.3532A>G | NP_065194.2:p.Met1178Val | |
| XR_938347.1:n.4097A>G | ||
| XR_938348.1:n.3050-812A>G | ||
| XR_001755343.2:n.4101A>G | ||
| XR_001755344.2:n.4101A>G | ||
| XR_002958720.1:n.3054-812A>G | ||
| XR_938347.2:n.4101A>G | ||
| NM_020461.4:c.3532A>G MANE Select | NP_065194.3:p.Met1178Val |