Linked Data
dbSNP Id:
rs763807448
ExAC:
9:38396784 A / G
gnomAD v2:
9-38396784-A-G
gnomAD v4:
9-38396787-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396787A>G , CM000671.2:g.38396787A>G | GRCh38 |
| NC_000009.11:g.38396784A>G , CM000671.1:g.38396784A>G | GRCh37 |
| NC_000009.10:g.38386784A>G | NCBI36 |
| NG_012253.1:g.9083A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.1039A>G MANE Select | ENSP00000366927.3:p.Lys347Glu | |
| ENST00000377698.3:c.1039A>G | ENSP00000366927.3:p.Lys347Glu | |
| NM_000692.4:c.1039A>G | NP_000683.3:p.Lys347Glu | |
| XM_011517802.1:c.1039A>G | XP_011516104.1:p.Lys347Glu | |
| XM_011517802.2:c.1039A>G | XP_011516104.1:p.Lys347Glu | |
| NM_000692.5:c.1039A>G MANE Select | NP_000683.3:p.Lys347Glu |