Linked Data
dbSNP Id:
rs769011746
ExAC:
1:222832164 A / G
gnomAD v2:
1-222832164-A-G
gnomAD v3:
1-222658822-A-G
gnomAD v4:
1-222658822-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.222658822A>G , CM000663.2:g.222658822A>G | GRCh38 |
| NC_000001.10:g.222832164A>G , CM000663.1:g.222832164A>G | GRCh37 |
| NC_000001.9:g.220898787A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344922.10:c.4708A>G MANE Select | ENSP00000340900.5:p.Lys1570Glu | |
| ENST00000340535.11:c.1342A>G | ENSP00000345866.7:p.Lys448Glu | |
| ENST00000344507.1:c.1475-6777A>G | ENSP00000341348.1:n.1475-6777A>G | |
| ENST00000344922.9:c.4708A>G | ENSP00000340900.5:p.Lys1570Glu | |
| ENST00000476400.1:n.181A>G | ||
| NM_001300867.1:c.1342A>G | NP_001287796.1:p.Lys448Glu | |
| NM_198551.3:c.4708A>G | NP_940953.2:p.Lys1570Glu | |
| XM_005273121.3:c.4708A>G | XP_005273178.1:p.Lys1570Glu | |
| XM_006711304.2:c.4531A>G | XP_006711367.1:p.Lys1511Glu | |
| NM_001324062.1:c.4708A>G | NP_001310991.1:p.Lys1570Glu | |
| NM_001324063.1:c.4531A>G | NP_001310992.1:p.Lys1511Glu | |
| NM_001324064.1:c.4216A>G | NP_001310993.1:p.Lys1406Glu | |
| NM_001324065.1:c.1342A>G | NP_001310994.1:p.Lys448Glu | |
| XM_006711304.4:c.4531A>G | XP_006711367.3:p.Lys1511Glu | |
| XM_017001243.2:c.4216A>G | XP_016856732.1:p.Lys1406Glu | |
| NM_198551.4:c.4708A>G MANE Select | NP_940953.2:p.Lys1570Glu | |
| NM_001300867.2:c.1342A>G | NP_001287796.1:p.Lys448Glu | |
| NM_001324062.2:c.4708A>G | NP_001310991.1:p.Lys1570Glu | |
| NM_001324063.2:c.4531A>G | NP_001310992.1:p.Lys1511Glu | |
| NM_001324064.2:c.4216A>G | NP_001310993.1:p.Lys1406Glu | |
| NM_001324065.2:c.1342A>G | NP_001310994.1:p.Lys448Glu |