Linked Data
dbSNP Id:
rs757585313
ExAC:
13:47409040 T / C
gnomAD v2:
13-47409040-T-C
gnomAD v4:
13-46834905-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46834905T>C , CM000675.2:g.46834905T>C | GRCh38 |
| NC_000013.10:g.47409040T>C , CM000675.1:g.47409040T>C | GRCh37 |
| NC_000013.9:g.46307041T>C | NCBI36 |
| NG_013011.1:g.67130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.1348A>G MANE Select | ENSP00000437737.1:p.Lys450Glu | |
| ENST00000543956.5:c.859A>G | ENSP00000441861.2:p.Lys287Glu | |
| ENST00000378688.8:c.1348A>G | ENSP00000367959.3:p.Lys450Glu | |
| ENST00000542664.3:c.1348A>G | ENSP00000437737.1:p.Lys450Glu | |
| ENST00000543956.4:c.1096A>G | ENSP00000441861.1:p.Lys366Glu | |
| NM_000621.4:c.1348A>G | NP_000612.1:p.Lys450Glu | |
| NM_001165947.2:c.1096A>G | NP_001159419.1:p.Lys366Glu | |
| NM_000621.5:c.1348A>G MANE Select | NP_000612.1:p.Lys450Glu | |
| NM_001165947.5:c.859A>G | NP_001159419.2:p.Lys287Glu | |
| NM_001378924.1:c.1348A>G | NP_001365853.1:p.Lys450Glu |