Linked Data
dbSNP Id:
rs758431436
gnomAD v2:
19-51411928-C-T
gnomAD v3:
19-50908672-C-T
gnomAD v4:
19-50908672-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908672C>T , CM000681.2:g.50908672C>T | GRCh38 |
| NC_000019.9:g.51411928C>T , CM000681.1:g.51411928C>T | GRCh37 |
| NC_000019.8:g.56103740C>T | NCBI36 |
| NG_012154.2:g.7067G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.382G>A MANE Select | ENSP00000326159.1:p.Glu128Lys | |
| ENST00000324041.5:c.382G>A | ENSP00000326159.1:p.Glu128Lys | |
| ENST00000431178.2:c.235G>A | ENSP00000399448.2:p.Glu79Lys | |
| ENST00000593885.1:c.97G>A | ENSP00000469769.1:p.Glu33Lys | |
| ENST00000596876.1:n.301G>A | ||
| ENST00000598305.5:c.97G>A | ENSP00000469963.1:p.Glu33Lys | |
| ENST00000599865.5:n.235G>A | ||
| ENST00000602148.1:c.394G>A | ENSP00000472091.1:n.394G>A | |
| NM_001302961.1:c.97G>A | NP_001289890.1:p.Glu33Lys | |
| NM_004917.4:c.382G>A | NP_004908.4:p.Glu128Lys | |
| NR_126566.1:n.375G>A | ||
| XM_005259441.3:c.97G>A | XP_005259498.2:p.Glu33Lys | |
| XM_011527545.1:c.382G>A | XP_011525847.1:p.Glu128Lys | |
| XM_011527546.1:c.382G>A | XP_011525848.1:p.Glu128Lys | |
| XM_011527547.1:c.235G>A | XP_011525849.1:p.Glu79Lys | |
| XM_005259441.4:c.97G>A | XP_005259498.2:p.Glu33Lys | |
| XM_011527545.3:c.382G>A | XP_011525847.1:p.Glu128Lys | |
| XM_011527546.2:c.382G>A | XP_011525848.1:p.Glu128Lys | |
| NM_001302961.2:c.97G>A | NP_001289890.1:p.Glu33Lys | |
| NR_126566.2:n.375G>A | ||
| NM_004917.5:c.382G>A MANE Select | NP_004908.4:p.Glu128Lys |