Linked Data
ClinVar Variation Id:
1415224
ClinVar RCV Id:
RCV001932978
dbSNP Id:
rs139920569
ExAC:
4:166263034 G / A
gnomAD v2:
4-166263034-G-A
gnomAD v3:
4-165341882-G-A
gnomAD v4:
4-165341882-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.165341882G>A , CM000666.2:g.165341882G>A | GRCh38 |
| NC_000004.11:g.166263034G>A , CM000666.1:g.166263034G>A | GRCh37 |
| NC_000004.10:g.166482484G>A | NCBI36 |
| NG_042288.1:g.19217G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261507.11:c.818G>A MANE Select | ENSP00000261507.6:p.Gly273Glu | |
| ENST00000261507.10:c.818G>A | ENSP00000261507.6:p.Gly273Glu | |
| ENST00000393766.6:c.425G>A | ENSP00000377361.2:p.Gly142Glu | |
| NM_001017369.2:c.425G>A | NP_001017369.1:p.Gly142Glu | |
| NM_006745.4:c.818G>A | NP_006736.1:p.Gly273Glu | |
| XM_005263176.1:c.818G>A | XP_005263233.1:p.Gly273Glu | |
| XM_005263176.2:c.818G>A | XP_005263233.1:p.Gly273Glu | |
| NM_006745.5:c.818G>A MANE Select | NP_006736.1:p.Gly273Glu | |
| NM_001017369.3:c.425G>A | NP_001017369.1:p.Gly142Glu |