Linked Data
dbSNP Id:
rs200127101
ExAC:
5:56155625 T / G
gnomAD v2:
5-56155625-T-G
gnomAD v4:
5-56859798-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56859798T>G , CM000667.2:g.56859798T>G | GRCh38 |
| NC_000005.9:g.56155625T>G , CM000667.1:g.56155625T>G | GRCh37 |
| NC_000005.8:g.56191382T>G | NCBI36 |
| NG_031884.1:g.49726T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.717T>G MANE Select | ENSP00000382423.3:p.Ser239Arg | |
| ENST00000399503.3:c.717T>G | ENSP00000382423.3:p.Ser239Arg | |
| NM_005921.1:c.717T>G | NP_005912.1:p.Ser239Arg | |
| XM_005248519.3:c.339T>G | XP_005248576.2:p.Ser113Arg | |
| XM_011543406.1:c.462T>G | XP_011541708.1:p.Ser154Arg | |
| XM_011543407.1:c.717T>G | XP_011541709.1:p.Ser239Arg | |
| XM_011543408.1:c.717T>G | XP_011541710.1:p.Ser239Arg | |
| XM_017009484.1:c.306T>G | XP_016864973.1:p.Ser102Arg | |
| XM_017009485.1:c.228T>G | XP_016864974.1:p.Ser76Arg | |
| XR_001742068.2:n.748T>G | ||
| NM_005921.2:c.717T>G MANE Select | NP_005912.1:p.Ser239Arg |