Linked Data
dbSNP Id:
rs773145127
ExAC:
20:48522266 T / G
gnomAD v2:
20-48522266-T-G
gnomAD v4:
20-49905729-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49905729T>G , CM000682.2:g.49905729T>G | GRCh38 |
| NC_000020.10:g.48522266T>G , CM000682.1:g.48522266T>G | GRCh37 |
| NC_000020.9:g.47955673T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289431.10:c.1453A>C MANE Select | ENSP00000289431.5:p.Ser485Arg | |
| ENST00000289431.9:c.1453A>C | ENSP00000289431.5:p.Ser485Arg | |
| ENST00000422556.1:c.1453A>C | ENSP00000416799.1:p.Ser485Arg | |
| NM_001135773.1:c.1453A>C | NP_001129245.1:p.Ser485Arg | |
| NM_006038.3:c.1453A>C | NP_006029.1:p.Ser485Arg | |
| XM_006723894.1:c.1453A>C | XP_006723957.1:p.Ser485Arg | |
| XM_011529116.1:c.1453A>C | XP_011527418.1:p.Ser485Arg | |
| NM_006038.4:c.1453A>C MANE Select | NP_006029.1:p.Ser485Arg | |
| NM_001135773.2:c.1453A>C | NP_001129245.1:p.Ser485Arg |