Linked Data
dbSNP Id:
rs1789804154
gnomAD v4:
7-21816604-G-A
MyVariant Identifiers:
chr7:g.21856222G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21816604G>A , CM000669.2:g.21816604G>A | GRCh38 |
| NC_000007.13:g.21856222G>A , CM000669.1:g.21856222G>A | GRCh37 |
| NC_000007.12:g.21822747G>A | NCBI36 |
| NG_012886.2:g.278390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10470G>A MANE Select | ENSP00000475939.1:p.Glu3490= | |
| ENST00000328843.10:c.10491G>A | ENSP00000330671.7:p.Glu3497= | |
| ENST00000409508.7:c.10470G>A | ENSP00000475939.1:p.Glu3490= | |
| ENST00000620169.4:c.10491G>A | ENSP00000481693.1:p.Glu3497= | |
| NM_001277115.1:c.10470G>A | NP_001264044.1:p.Glu3490= | |
| NM_001277115.2:c.10470G>A MANE Select | NP_001264044.1:p.Glu3490= |