Linked Data
dbSNP Id:
rs774271956
ExAC:
9:126139312 A / G
gnomAD v2:
9-126139312-A-G
gnomAD v4:
9-123377033-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123377033A>G , CM000671.2:g.123377033A>G | GRCh38 |
| NC_000009.11:g.126139312A>G , CM000671.1:g.126139312A>G | GRCh37 |
| NC_000009.10:g.125179133A>G | NCBI36 |
| NG_051311.1:g.27969A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.3829A>G MANE Select | ENSP00000362734.3:p.Lys1277Glu | |
| ENST00000373631.7:c.3829A>G | ENSP00000362734.3:p.Lys1277Glu | |
| ENST00000460253.1:c.2833A>G | ENSP00000435279.1:p.Lys945Glu | |
| NM_173689.6:c.3829A>G | NP_775960.4:p.Lys1277Glu | |
| NR_104603.1:n.2943A>G | ||
| XM_005251934.1:c.2833A>G | XP_005251991.1:p.Lys945Glu | |
| XM_011518556.1:c.3802A>G | XP_011516858.1:p.Lys1268Glu | |
| XM_011518557.1:c.3634A>G | XP_011516859.1:p.Lys1212Glu | |
| XM_011518558.1:c.3634A>G | XP_011516860.1:p.Lys1212Glu | |
| XM_005251934.3:c.2833A>G | XP_005251991.1:p.Lys945Glu | |
| XM_011518556.3:c.3802A>G | XP_011516858.1:p.Lys1268Glu | |
| XM_011518557.3:c.3634A>G | XP_011516859.1:p.Lys1212Glu | |
| XM_011518558.3:c.3634A>G | XP_011516860.1:p.Lys1212Glu | |
| NM_173689.7:c.3829A>G MANE Select | NP_775960.4:p.Lys1277Glu | |
| NR_104603.2:n.2943A>G |