Linked Data
dbSNP Id:
rs377748462
ExAC:
7:100224425 G / T
gnomAD v2:
7-100224425-G-T
gnomAD v3:
7-100626802-G-T
gnomAD v4:
7-100626802-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100626802G>T , CM000669.2:g.100626802G>T | GRCh38 |
| NC_000007.13:g.100224425G>T , CM000669.1:g.100224425G>T | GRCh37 |
| NC_000007.12:g.100062361G>T | NCBI36 |
| NG_007989.1:g.19749C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.2097C>A MANE Select | ENSP00000223051.3:p.Asp699Glu | |
| ENST00000223051.7:c.2097C>A | ENSP00000223051.3:p.Asp699Glu | |
| ENST00000431692.5:c.*772C>A | ENSP00000413905.1:n.*772C>A | |
| ENST00000461176.1:n.443C>A | ||
| ENST00000462090.5:n.1133C>A | ||
| ENST00000462107.1:c.2097C>A | ENSP00000420525.1:p.Asp699Glu | |
| ENST00000465294.5:n.2017C>A | ||
| ENST00000476304.5:n.1718C>A | ||
| ENST00000490084.5:c.1450C>A | ||
| NM_001206855.1:c.1584C>A | NP_001193784.1:p.Asp528Glu | |
| NM_003227.3:c.2097C>A | NP_003218.2:p.Asp699Glu | |
| XM_005250553.3:c.2097C>A | XP_005250610.1:p.Asp699Glu | |
| XM_005250554.3:c.2097C>A | XP_005250611.1:p.Asp699Glu | |
| XR_927814.1:n.433+4248G>T | ||
| NM_001206855.2:c.1584C>A | NP_001193784.1:p.Asp528Glu | |
| XM_005250553.4:c.2097C>A | XP_005250610.1:p.Asp699Glu | |
| XM_017012573.1:c.2097C>A | XP_016868062.1:p.Asp699Glu | |
| NM_003227.4:c.2097C>A MANE Select | NP_003218.2:p.Asp699Glu | |
| NM_001206855.3:c.1584C>A | NP_001193784.1:p.Asp528Glu |