Linked Data
dbSNP Id:
rs2048576522
gnomAD v4:
17-44379692-C-T
MyVariant Identifiers:
chr17:g.42457060C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44379692C>T , CM000679.2:g.44379692C>T | GRCh38 |
| NC_000017.10:g.42457060C>T , CM000679.1:g.42457060C>T | GRCh37 |
| NC_000017.9:g.39812586C>T | NCBI36 |
| NG_008331.1:g.14814G>A , LRG_479:g.14814G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.1875G>A MANE Select | ENSP00000262407.5:p.Glu625= | |
| ENST00000648408.1:c.1306G>A | ||
| ENST00000262407.5:c.1875G>A | ENSP00000262407.5:p.Glu625= | |
| ENST00000592462.5:n.670G>A | ||
| NM_000419.3:c.1875G>A , LRG_479t1:c.1875G>A | NP_000410.2:p.Glu625= | |
| XM_011524749.1:c.1875G>A | XP_011523051.1:p.Glu625= | |
| XM_011524750.1:c.1875G>A | XP_011523052.1:p.Glu625= | |
| NM_000419.4:c.1875G>A | NP_000410.2:p.Glu625= | |
| NM_000419.5:c.1875G>A MANE Select | NP_000410.2:p.Glu625= |