Linked Data
dbSNP Id:
rs766799672
ExAC:
13:28498454 A / G
gnomAD v2:
13-28498454-A-G
gnomAD v3:
13-27924317-A-G
gnomAD v4:
13-27924317-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924317A>G , CM000675.2:g.27924317A>G | GRCh38 |
| NC_000013.10:g.28498454A>G , CM000675.1:g.28498454A>G | GRCh37 |
| NC_000013.9:g.27396454A>G | NCBI36 |
| NG_008183.1:g.9287A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.468A>G MANE Select | ENSP00000370421.4:p.Ala156= | |
| ENST00000381033.4:c.468A>G | ENSP00000370421.4:p.Ala156= | |
| NM_000209.3:c.468A>G | NP_000200.1:p.Ala156= | |
| XR_941580.1:n.1110A>G | ||
| XR_941580.2:n.1122A>G | ||
| NM_000209.4:c.468A>G MANE Select | NP_000200.1:p.Ala156= |