Linked Data
dbSNP Id:
rs541770641
ExAC:
13:47409028 C / G
gnomAD v2:
13-47409028-C-G
gnomAD v3:
13-46834893-C-G
gnomAD v4:
13-46834893-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46834893C>G , CM000675.2:g.46834893C>G | GRCh38 |
| NC_000013.10:g.47409028C>G , CM000675.1:g.47409028C>G | GRCh37 |
| NC_000013.9:g.46307029C>G | NCBI36 |
| NG_013011.1:g.67142G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.1360G>C MANE Select | ENSP00000437737.1:p.Glu454Gln | |
| ENST00000543956.5:c.871G>C | ENSP00000441861.2:p.Glu291Gln | |
| ENST00000378688.8:c.1360G>C | ENSP00000367959.3:p.Glu454Gln | |
| ENST00000542664.3:c.1360G>C | ENSP00000437737.1:p.Glu454Gln | |
| ENST00000543956.4:c.1108G>C | ENSP00000441861.1:p.Glu370Gln | |
| NM_000621.4:c.1360G>C | NP_000612.1:p.Glu454Gln | |
| NM_001165947.2:c.1108G>C | NP_001159419.1:p.Glu370Gln | |
| NM_000621.5:c.1360G>C MANE Select | NP_000612.1:p.Glu454Gln | |
| NM_001165947.5:c.871G>C | NP_001159419.2:p.Glu291Gln | |
| NM_001378924.1:c.1360G>C | NP_001365853.1:p.Glu454Gln |