Linked Data
dbSNP Id:
rs767429416
ExAC:
7:87179351 T / C
gnomAD v2:
7-87179351-T-C
gnomAD v3:
7-87550035-T-C
gnomAD v4:
7-87550035-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87550035T>C , CM000669.2:g.87550035T>C | GRCh38 |
| NC_000007.13:g.87179351T>C , CM000669.1:g.87179351T>C | GRCh37 |
| NC_000007.12:g.87017287T>C | NCBI36 |
| NG_011513.1:g.168214A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.1370A>G | ENSP00000265724.3:p.Asp457Gly | |
| ENST00000622132.5:c.1370A>G MANE Select | ENSP00000478255.1:p.Asp457Gly | |
| ENST00000265724.7:c.1370A>G | ENSP00000265724.3:p.Asp457Gly | |
| ENST00000482527.1:n.124A>G | ||
| ENST00000543898.5:c.1178A>G | ENSP00000444095.1:p.Asp393Gly | |
| ENST00000622132.4:c.1370A>G | ENSP00000478255.1:p.Asp457Gly | |
| NM_000927.4:c.1370A>G | NP_000918.2:p.Asp457Gly | |
| NM_001348944.1:c.1370A>G | NP_001335873.1:p.Asp457Gly | |
| NM_001348945.1:c.1580A>G | NP_001335874.1:p.Asp527Gly | |
| NM_001348946.1:c.1370A>G | NP_001335875.1:p.Asp457Gly | |
| NM_001348946.2:c.1370A>G MANE Select | NP_001335875.1:p.Asp457Gly | |
| NM_000927.5:c.1370A>G | NP_000918.2:p.Asp457Gly | |
| NM_001348944.2:c.1370A>G | NP_001335873.1:p.Asp457Gly | |
| NM_001348945.2:c.1580A>G | NP_001335874.1:p.Asp527Gly |