Linked Data
dbSNP Id:
rs1229714583
gnomAD v2:
19-55666165-T-C
gnomAD v3:
19-55154797-T-C
gnomAD v4:
19-55154797-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154797T>C , CM000681.2:g.55154797T>C | GRCh38 |
| NC_000019.9:g.55666165T>C , CM000681.1:g.55666165T>C | GRCh37 |
| NC_000019.8:g.60357977T>C | NCBI36 |
| NG_007866.2:g.7936A>G , LRG_432:g.7936A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.316A>G MANE Select | ENSP00000341838.5:p.Lys106Glu | |
| ENST00000665070.1:c.316A>G | ENSP00000499482.1:p.Lys106Glu | |
| ENST00000344887.9:c.316A>G | ENSP00000341838.5:p.Lys106Glu | |
| ENST00000585806.5:n.315A>G | ||
| ENST00000586669.5:n.324A>G | ||
| ENST00000587176.5:n.500A>G | ||
| ENST00000587871.1:c.935A>G | ||
| ENST00000588882.1:c.241A>G | ENSP00000466729.1:p.Lys81Glu | |
| ENST00000590463.1:n.488A>G | ||
| NM_000363.4:c.316A>G , LRG_432t1:c.316A>G | NP_000354.4:p.Lys106Glu | |
| NM_000363.5:c.316A>G MANE Select | NP_000354.4:p.Lys106Glu |