Linked Data
dbSNP Id:
rs759474031
ExAC:
14:21780619 A / G
gnomAD v2:
14-21780619-A-G
gnomAD v3:
14-21312460-A-G
gnomAD v4:
14-21312460-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312460A>G , CM000676.2:g.21312460A>G | GRCh38 |
| NC_000014.8:g.21780619A>G , CM000676.1:g.21780619A>G | GRCh37 |
| NC_000014.7:g.20850459A>G | NCBI36 |
| NG_008933.1:g.29484A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1105A>G MANE Select | ENSP00000382895.2:p.Lys369Glu | |
| ENST00000400017.6:c.1105A>G | ENSP00000382895.2:p.Lys369Glu | |
| ENST00000556336.5:c.1024A>G | ENSP00000450445.1:p.Lys342Glu | |
| ENST00000557771.5:c.1024A>G | ENSP00000451219.1:p.Lys342Glu | |
| NM_020366.3:c.1105A>G | NP_065099.3:p.Lys369Glu | |
| XM_011536983.1:c.1072A>G | XP_011535285.1:p.Lys358Glu | |
| NM_020366.4:c.1105A>G MANE Select | NP_065099.3:p.Lys369Glu |