Linked Data
dbSNP Id:
rs768180231
ExAC:
2:27454854 G / A
gnomAD v2:
2-27454854-G-A
gnomAD v4:
2-27231986-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27231986G>A , CM000664.2:g.27231986G>A | GRCh38 |
| NC_000002.11:g.27454854G>A , CM000664.1:g.27454854G>A | GRCh37 |
| NC_000002.10:g.27308358G>A | NCBI36 |
| NG_046394.1:g.19597G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264705.9:c.2407G>A MANE Select | ENSP00000264705.3:p.Glu803Lys | |
| ENST00000264705.8:c.2407G>A | ENSP00000264705.3:p.Glu803Lys | |
| ENST00000403525.5:c.2218G>A | ENSP00000384510.1:p.Glu740Lys | |
| ENST00000464159.1:n.155G>A | ||
| NM_001306079.1:c.2218G>A | NP_001293008.1:p.Glu740Lys | |
| NM_004341.3:c.2407G>A | NP_004332.2:p.Glu803Lys | |
| NM_004341.4:c.2407G>A | NP_004332.2:p.Glu803Lys | |
| XM_005264555.2:c.2407G>A | XP_005264612.1:p.Glu803Lys | |
| XM_005264556.2:c.2407G>A | XP_005264613.1:p.Glu803Lys | |
| XM_005264557.2:c.2407G>A | XP_005264614.1:p.Glu803Lys | |
| XM_006712101.1:c.2218G>A | XP_006712164.1:p.Glu740Lys | |
| XM_006712101.3:c.2218G>A | XP_006712164.1:p.Glu740Lys | |
| XM_024453131.1:c.133G>A | XP_024308899.1:p.Glu45Lys | |
| NM_004341.5:c.2407G>A MANE Select | NP_004332.2:p.Glu803Lys | |
| NM_001306079.2:c.2218G>A | NP_001293008.1:p.Glu740Lys |