Linked Data
dbSNP Id:
rs1473657044
gnomAD v2:
20-48522721-T-C
gnomAD v3:
20-49906184-T-C
gnomAD v4:
20-49906184-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49906184T>C , CM000682.2:g.49906184T>C | GRCh38 |
| NC_000020.10:g.48522721T>C , CM000682.1:g.48522721T>C | GRCh37 |
| NC_000020.9:g.47956128T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289431.10:c.998A>G MANE Select | ENSP00000289431.5:p.Asp333Gly | |
| ENST00000289431.9:c.998A>G | ENSP00000289431.5:p.Asp333Gly | |
| ENST00000422556.1:c.998A>G | ENSP00000416799.1:p.Asp333Gly | |
| NM_001135773.1:c.998A>G | NP_001129245.1:p.Asp333Gly | |
| NM_006038.3:c.998A>G | NP_006029.1:p.Asp333Gly | |
| XM_006723894.1:c.998A>G | XP_006723957.1:p.Asp333Gly | |
| XM_011529116.1:c.998A>G | XP_011527418.1:p.Asp333Gly | |
| NM_006038.4:c.998A>G MANE Select | NP_006029.1:p.Asp333Gly | |
| NM_001135773.2:c.998A>G | NP_001129245.1:p.Asp333Gly |