Linked Data
dbSNP Id:
rs200199237
ExAC:
7:87179830 T / G
gnomAD v2:
7-87179830-T-G
gnomAD v4:
7-87550514-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87550514T>G , CM000669.2:g.87550514T>G | GRCh38 |
| NC_000007.13:g.87179830T>G , CM000669.1:g.87179830T>G | GRCh37 |
| NC_000007.12:g.87017766T>G | NCBI36 |
| NG_011513.1:g.167735A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.1178A>C | ENSP00000265724.3:p.Glu393Ala | |
| ENST00000622132.5:c.1178A>C MANE Select | ENSP00000478255.1:p.Glu393Ala | |
| ENST00000265724.7:c.1178A>C | ENSP00000265724.3:p.Glu393Ala | |
| ENST00000543898.5:c.986A>C | ENSP00000444095.1:p.Glu329Ala | |
| ENST00000622132.4:c.1178A>C | ENSP00000478255.1:p.Glu393Ala | |
| NM_000927.4:c.1178A>C | NP_000918.2:p.Glu393Ala | |
| NM_001348944.1:c.1178A>C | NP_001335873.1:p.Glu393Ala | |
| NM_001348945.1:c.1388A>C | NP_001335874.1:p.Glu463Ala | |
| NM_001348946.1:c.1178A>C | NP_001335875.1:p.Glu393Ala | |
| NM_001348946.2:c.1178A>C MANE Select | NP_001335875.1:p.Glu393Ala | |
| NM_000927.5:c.1178A>C | NP_000918.2:p.Glu393Ala | |
| NM_001348944.2:c.1178A>C | NP_001335873.1:p.Glu393Ala | |
| NM_001348945.2:c.1388A>C | NP_001335874.1:p.Glu463Ala |