Linked Data
dbSNP Id:
rs1888491868
gnomAD v3:
15-38351660-G-A
gnomAD v4:
15-38351660-G-A
COSMIC:
COSM6210416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351660G>A , CM000677.2:g.38351660G>A | GRCh38 |
| NC_000015.9:g.38643861G>A , CM000677.1:g.38643861G>A | GRCh37 |
| NC_000015.8:g.36431153G>A | NCBI36 |
| NG_008980.1:g.103810G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1331G>A MANE Select | ENSP00000299084.4:p.Gly444Glu | |
| ENST00000299084.8:c.1331G>A | ENSP00000299084.4:p.Gly444Glu | |
| NM_152594.2:c.1331G>A | NP_689807.1:p.Gly444Glu | |
| XM_005254202.2:c.1367G>A | XP_005254259.1:p.Gly456Glu | |
| XM_005254203.3:c.1109G>A | XP_005254260.1:p.Gly370Glu | |
| XM_011521288.1:c.1268G>A | XP_011519590.1:p.Gly423Glu | |
| XM_011521289.1:c.1268G>A | XP_011519591.1:p.Gly423Glu | |
| XM_011521290.1:c.1268G>A | XP_011519592.1:p.Gly423Glu | |
| XM_005254202.3:c.1367G>A | XP_005254259.1:p.Gly456Glu | |
| XM_011521289.3:c.1268G>A | XP_011519591.1:p.Gly423Glu | |
| NM_152594.3:c.1331G>A MANE Select | NP_689807.1:p.Gly444Glu |