Linked Data
dbSNP Id:
rs748673655
ExAC:
19:6669992 C / T
gnomAD v2:
19-6669992-C-T
gnomAD v3:
19-6669981-C-T
gnomAD v4:
19-6669981-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6669981C>T , CM000681.2:g.6669981C>T | GRCh38 |
| NC_000019.9:g.6669992C>T , CM000681.1:g.6669992C>T | GRCh37 |
| NC_000019.8:g.6620992C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675206.1:c.89G>A MANE Select | ENSP00000502837.1:p.Arg30Lys | |
| ENST00000245912.7:c.89G>A | ENSP00000245912.3:p.Arg30Lys | |
| ENST00000599359.1:c.89G>A | ENSP00000469049.1:p.Arg30Lys | |
| NM_003807.3:c.89G>A | NP_003798.2:p.Arg30Lys | |
| NM_172014.2:c.89G>A | NP_742011.2:p.Arg30Lys | |
| XM_005259670.2:c.89G>A | XP_005259727.1:p.Arg30Lys | |
| XM_011528398.1:c.89G>A | XP_011526700.1:p.Arg30Lys | |
| XR_936212.1:n.603G>A | ||
| NM_003807.4:c.89G>A | NP_003798.2:p.Arg30Lys | |
| NM_172014.3:c.89G>A | NP_742011.2:p.Arg30Lys | |
| XM_017027417.1:c.89G>A | XP_016882906.1:p.Arg30Lys | |
| XM_017027418.1:c.89G>A | XP_016882907.1:p.Arg30Lys | |
| XR_001753777.1:n.615G>A | ||
| XR_936212.2:n.615G>A | ||
| NM_001376887.1:c.89G>A MANE Select | NP_001363816.1:p.Arg30Lys | |
| NM_003807.5:c.89G>A | NP_003798.2:p.Arg30Lys |