Linked Data
ClinVar Variation Id:
1575805
ClinVar RCV Id:
RCV002092981
dbSNP Id:
rs201434761
ExAC:
2:190428317 A / G
gnomAD v2:
2-190428317-A-G
gnomAD v3:
2-189563591-A-G
gnomAD v4:
2-189563591-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189563591A>G , CM000664.2:g.189563591A>G | GRCh38 |
| NC_000002.11:g.190428317A>G , CM000664.1:g.190428317A>G | GRCh37 |
| NC_000002.10:g.190136562A>G | NCBI36 |
| NG_009027.1:g.22221T>C , LRG_837:g.22221T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.1395T>C MANE Select | ENSP00000261024.3:p.Ala465= | |
| ENST00000261024.6:c.1395T>C | ENSP00000261024.2:p.Ala465= | |
| NM_014585.5:c.1395T>C , LRG_837t1:c.1395T>C | NP_055400.1:p.Ala465= | |
| XM_005246505.1:c.1275T>C | XP_005246562.1:p.Ala425= | |
| XM_005246505.2:c.1275T>C | XP_005246562.1:p.Ala425= | |
| XM_017003938.2:c.1275T>C | XP_016859427.1:p.Ala425= | |
| NM_014585.6:c.1395T>C MANE Select | NP_055400.1:p.Ala465= |