Linked Data
dbSNP Id:
rs2048504489
gnomAD v3:
17-44372372-C-T
gnomAD v4:
17-44372372-C-T
COSMIC:
COSM3191061
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372372C>T , CM000679.2:g.44372372C>T | GRCh38 |
| NC_000017.10:g.42449740C>T , CM000679.1:g.42449740C>T | GRCh37 |
| NC_000017.9:g.39805266C>T | NCBI36 |
| NG_008331.1:g.22134G>A , LRG_479:g.22134G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3112G>A MANE Select | ENSP00000262407.5:p.Gly1038Arg | |
| ENST00000648408.1:c.2426G>A | ||
| ENST00000262407.5:c.3112G>A | ENSP00000262407.5:p.Gly1038Arg | |
| ENST00000587295.5:c.305G>A | ||
| ENST00000588098.1:c.89G>A | ||
| NM_000419.3:c.3112G>A , LRG_479t1:c.3112G>A | NP_000410.2:p.Gly1038Arg | |
| XM_011524749.1:c.3010G>A | XP_011523051.1:p.Gly1004Arg | |
| XM_011524750.1:c.2995G>A | XP_011523052.1:p.Gly999Arg | |
| NM_000419.4:c.3112G>A | NP_000410.2:p.Gly1038Arg | |
| NM_000419.5:c.3112G>A MANE Select | NP_000410.2:p.Gly1038Arg |