Linked Data
dbSNP Id:
rs1455075823
gnomAD v2:
19-6669991-T-C
gnomAD v3:
19-6669980-T-C
gnomAD v4:
19-6669980-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6669980T>C , CM000681.2:g.6669980T>C | GRCh38 |
| NC_000019.9:g.6669991T>C , CM000681.1:g.6669991T>C | GRCh37 |
| NC_000019.8:g.6620991T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675206.1:c.90A>G MANE Select | ENSP00000502837.1:p.Arg30= | |
| ENST00000245912.7:c.90A>G | ENSP00000245912.3:p.Arg30= | |
| ENST00000599359.1:c.90A>G | ENSP00000469049.1:p.Arg30= | |
| NM_003807.3:c.90A>G | NP_003798.2:p.Arg30= | |
| NM_172014.2:c.90A>G | NP_742011.2:p.Arg30= | |
| XM_005259670.2:c.90A>G | XP_005259727.1:p.Arg30= | |
| XM_011528398.1:c.90A>G | XP_011526700.1:p.Arg30= | |
| XR_936212.1:n.604A>G | ||
| NM_003807.4:c.90A>G | NP_003798.2:p.Arg30= | |
| NM_172014.3:c.90A>G | NP_742011.2:p.Arg30= | |
| XM_017027417.1:c.90A>G | XP_016882906.1:p.Arg30= | |
| XM_017027418.1:c.90A>G | XP_016882907.1:p.Arg30= | |
| XR_001753777.1:n.616A>G | ||
| XR_936212.2:n.616A>G | ||
| NM_001376887.1:c.90A>G MANE Select | NP_001363816.1:p.Arg30= | |
| NM_003807.5:c.90A>G | NP_003798.2:p.Arg30= |