Linked Data
ClinVar Variation Id:
530927
ClinVar RCV Id:
RCV000637013
dbSNP Id:
rs1553268935
gnomAD v4:
1-67053974-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67053974C>T , CM000663.2:g.67053974C>T | GRCh38 |
| NC_000001.10:g.67519657C>T , CM000663.1:g.67519657C>T | GRCh37 |
| NC_000001.9:g.67292245C>T | NCBI36 |
| NG_012933.1:g.5424G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000235345.6:c.40G>A MANE Select | ENSP00000235345.5:p.Gly14Arg | |
| ENST00000235345.5:c.40G>A | ENSP00000235345.5:p.Gly14Arg | |
| NM_015139.2:c.40G>A | NP_055954.1:p.Gly14Arg | |
| XM_006710478.1:c.40G>A | XP_006710541.1:p.Gly14Arg | |
| XM_011541070.1:c.40G>A | XP_011539372.1:p.Gly14Arg | |
| XM_006710478.2:c.40G>A | XP_006710541.1:p.Gly14Arg | |
| XM_011541070.2:c.40G>A | XP_011539372.1:p.Gly14Arg | |
| XR_001737057.2:n.450G>A | ||
| XR_001737058.2:n.443G>A | ||
| NM_015139.3:c.40G>A MANE Select | NP_055954.1:p.Gly14Arg |