Linked Data
dbSNP Id:
rs200023742
ExAC:
1:45974696 A / G
gnomAD v2:
1-45974696-A-G
gnomAD v3:
1-45509024-A-G
gnomAD v4:
1-45509024-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45509024A>G , CM000663.2:g.45509024A>G | GRCh38 |
| NC_000001.10:g.45974696A>G , CM000663.1:g.45974696A>G | GRCh37 |
| NC_000001.9:g.45747283A>G | NCBI36 |
| NG_013378.1:g.13841A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401061.9:c.658A>G MANE Select | ENSP00000383840.4:p.Lys220Glu | |
| ENST00000401061.8:c.658A>G | ENSP00000383840.4:p.Lys220Glu | |
| ENST00000616135.1:c.487A>G | ENSP00000478859.1:p.Lys163Glu | |
| NM_015506.2:c.658A>G | NP_056321.2:p.Lys220Glu | |
| XM_005270724.3:c.463A>G | XP_005270781.1:p.Lys155Glu | |
| XM_011541204.1:c.487A>G | XP_011539506.1:p.Lys163Glu | |
| NM_001330540.1:c.487A>G | NP_001317469.1:p.Lys163Glu | |
| XM_005270724.5:c.463A>G | XP_005270781.1:p.Lys155Glu | |
| NM_015506.3:c.658A>G MANE Select | NP_056321.2:p.Lys220Glu | |
| NM_001330540.2:c.487A>G | NP_001317469.1:p.Lys163Glu |