Linked Data
ClinVar Variation Id:
281713
ClinVar RCV Id:
RCV001705408
dbSNP Id:
rs543230518
ExAC:
15:48936892 C / T
gnomAD v2:
15-48936892-C-T
gnomAD v3:
15-48644695-C-T
gnomAD v4:
15-48644695-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48644695C>T , CM000677.2:g.48644695C>T | GRCh38 |
| NC_000015.9:g.48936892C>T , CM000677.1:g.48936892C>T | GRCh37 |
| NC_000015.8:g.46724184C>T | NCBI36 |
| NG_008805.2:g.6094G>A , LRG_778:g.6094G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.75G>A | ENSP00000453958.2:p.Ala25= | |
| ENST00000674301.2:c.75G>A | ENSP00000501333.2:p.Ala25= | |
| ENST00000316623.10:c.75G>A MANE Select | ENSP00000325527.5:p.Ala25= | |
| ENST00000316623.9:c.75G>A | ENSP00000325527.5:p.Ala25= | |
| ENST00000537463.6:c.75G>A | ENSP00000440294.2:p.Ala25= | |
| ENST00000558230.1:n.138G>A | ||
| ENST00000560355.1:c.75G>A | ENSP00000453901.1:p.Ala25= | |
| NM_000138.4:c.75G>A , LRG_778t1:c.75G>A | NP_000129.3:p.Ala25= | |
| NM_000138.5:c.75G>A MANE Select | NP_000129.3:p.Ala25= |