Linked Data
dbSNP Id:
rs771027461
ExAC:
2:73717164 A / C
gnomAD v2:
2-73717164-A-C
gnomAD v4:
2-73490037-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490037A>C , CM000664.2:g.73490037A>C | GRCh38 |
| NC_000002.11:g.73717164A>C , CM000664.1:g.73717164A>C | GRCh37 |
| NC_000002.10:g.73570672A>C | NCBI36 |
| NG_011690.1:g.109285A>C , LRG_741:g.109285A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7697A>C | ENSP00000507671.1:p.Glu2566Ala | |
| ENST00000682801.1:c.7697A>C | ENSP00000507862.1:p.Glu2566Ala | |
| ENST00000682859.1:c.7697A>C | ENSP00000508222.1:p.Glu2566Ala | |
| ENST00000683791.1:c.1089A>C | ||
| ENST00000684460.1:c.5149A>C | ||
| ENST00000684548.1:c.7697A>C | ENSP00000507421.1:p.Glu2566Ala | |
| ENST00000684590.1:c.2144A>C | ENSP00000507376.1:p.Glu715Ala | |
| ENST00000684656.1:c.5149A>C | ||
| ENST00000613296.6:c.8078A>C MANE Select | ENSP00000482968.1:p.Glu2693Ala | |
| ENST00000651434.1:c.896-29738A>C | ||
| ENST00000423048.5:c.2909A>C | ENSP00000399833.1:p.Glu970Ala | |
| ENST00000484298.5:c.7952A>C | ENSP00000478155.1:p.Glu2651Ala | |
| ENST00000613296.4:c.8078A>C | ENSP00000482968.1:p.Glu2693Ala | |
| ENST00000614410.4:c.8078A>C | ENSP00000479094.1:p.Glu2693Ala | |
| ENST00000620466.4:n.1881A>C | ||
| NM_015120.4:c.8081A>C , LRG_741t1:c.8081A>C | NP_055935.4:p.Glu2694Ala | |
| NM_001378454.1:c.8078A>C MANE Select | NP_001365383.1:p.Glu2693Ala |