Linked Data
ClinVar Variation Id:
1144331
ClinVar RCV Id:
RCV001482796
dbSNP Id:
rs372144482
ExAC:
8:145108024 A / C
gnomAD v2:
8-145108024-A-C
gnomAD v3:
8-144053121-A-C
gnomAD v4:
8-144053121-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144053121A>C , CM000670.2:g.144053121A>C | GRCh38 |
| NC_000008.10:g.145108024A>C , CM000670.1:g.145108024A>C | GRCh37 |
| NC_000008.9:g.145180012A>C | NCBI36 |
| NG_032671.1:g.12561T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618853.5:c.2880T>G MANE Select | ENSP00000480476.1:p.Ala960= | |
| ENST00000527993.1:n.366T>G | ||
| ENST00000618853.4:c.2880T>G | ENSP00000480476.1:p.Ala960= | |
| NM_017570.4:c.2880T>G | NP_060040.1:p.Ala960= | |
| XM_011516960.1:c.3168T>G | XP_011515262.1:p.Ala1056= | |
| XM_011516961.1:c.3163T>G | XP_011515263.1:p.Ter1055Gly | |
| XR_001745509.1:n.3255T>G | ||
| NM_017570.5:c.2880T>G MANE Select | NP_060040.1:p.Ala960= |