Linked Data
dbSNP Id:
rs1410177368
gnomAD v2:
1-173878764-C-T
gnomAD v4:
1-173909626-C-T
COSMIC:
COSM4926795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909626C>T , CM000663.2:g.173909626C>T | GRCh38 |
| NC_000001.10:g.173878764C>T , CM000663.1:g.173878764C>T | GRCh37 |
| NC_000001.9:g.172145387C>T | NCBI36 |
| NG_012462.1:g.12753G>A , LRG_577:g.12753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1079G>A MANE Select | ENSP00000356671.3:p.Gly360Asp | |
| ENST00000367698.3:c.1079G>A | ENSP00000356671.3:p.Gly360Asp | |
| ENST00000617423.4:c.560-2133G>A | ENSP00000478688.1:n.560-2133G>A | |
| NM_000488.3:c.1079G>A , LRG_577t1:c.1079G>A | NP_000479.1:p.Gly360Asp | |
| XM_005245198.2:c.935G>A | XP_005245255.1:p.Gly312Asp | |
| NM_001365052.1:c.935G>A | NP_001351981.1:p.Gly312Asp | |
| NM_000488.4:c.1079G>A MANE Select | NP_000479.1:p.Gly360Asp | |
| NM_001365052.2:c.935G>A | NP_001351981.1:p.Gly312Asp | |
| NM_001386302.1:c.1202G>A | NP_001373231.1:p.Gly401Asp | |
| NM_001386303.1:c.1160G>A | NP_001373232.1:p.Gly387Asp | |
| NM_001386304.1:c.1058G>A | NP_001373233.1:p.Gly353Asp | |
| NM_001386305.1:c.1022G>A | NP_001373234.1:p.Gly341Asp | |
| NM_001386306.1:c.863G>A | NP_001373235.1:p.Gly288Asp |