Linked Data
ClinVar Variation Id:
1593597
ClinVar RCV Id:
RCV002112999
dbSNP Id:
rs2103293066
MyVariant Identifiers:
chr1:g.15772124G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445629G>A , CM000663.2:g.15445629G>A | GRCh38 |
| NC_000001.10:g.15772124G>A , CM000663.1:g.15772124G>A | GRCh37 |
| NC_000001.9:g.15644711G>A | NCBI36 |
| NG_009253.1:g.12187G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.672G>A MANE Select | ENSP00000365116.4:p.Leu224= | |
| ENST00000375943.6:c.*126G>A | ENSP00000365110.2:n.*126G>A | |
| ENST00000375949.4:c.672G>A | ENSP00000365116.4:p.Leu224= | |
| ENST00000483406.1:n.436G>A | ||
| NM_007272.2:c.672G>A | NP_009203.2:p.Leu224= | |
| XM_011540550.1:c.526G>A | XP_011538852.1:p.Gly176Arg | |
| NM_007272.3:c.672G>A MANE Select | NP_009203.2:p.Leu224= |