Linked Data
ClinVar Variation Id:
241006
dbSNP Id:
rs200054604
ExAC:
2:73646411 A / C
gnomAD v2:
2-73646411-A-C
gnomAD v3:
2-73419283-A-C
gnomAD v4:
2-73419283-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73419283A>C , CM000664.2:g.73419283A>C | GRCh38 |
| NC_000002.11:g.73646411A>C , CM000664.1:g.73646411A>C | GRCh37 |
| NC_000002.10:g.73499919A>C | NCBI36 |
| NG_011690.1:g.38529A>C , LRG_741:g.38529A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.161A>C | ENSP00000507671.1:p.Glu54Ala | |
| ENST00000682675.1:n.571A>C | ||
| ENST00000682801.1:c.161A>C | ENSP00000507862.1:p.Glu54Ala | |
| ENST00000682859.1:c.161A>C | ENSP00000508222.1:p.Glu54Ala | |
| ENST00000682889.1:n.576A>C | ||
| ENST00000684148.1:n.357A>C | ||
| ENST00000684548.1:c.161A>C | ENSP00000507421.1:p.Glu54Ala | |
| ENST00000613296.6:c.611A>C MANE Select | ENSP00000482968.1:p.Glu204Ala | |
| ENST00000484298.5:c.485A>C | ENSP00000478155.1:p.Glu162Ala | |
| ENST00000613296.4:c.611A>C | ENSP00000482968.1:p.Glu204Ala | |
| ENST00000614410.4:c.611A>C | ENSP00000479094.1:p.Glu204Ala | |
| NM_015120.4:c.614A>C , LRG_741t1:c.614A>C | NP_055935.4:p.Glu205Ala | |
| NM_001378454.1:c.611A>C MANE Select | NP_001365383.1:p.Glu204Ala |