Linked Data
dbSNP Id:
rs1045243646
gnomAD v2:
10-96701619-C-T
gnomAD v3:
10-94941862-C-T
gnomAD v4:
10-94941862-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941862C>T , CM000672.2:g.94941862C>T | GRCh38 |
| NC_000010.10:g.96701619C>T , CM000672.1:g.96701619C>T | GRCh37 |
| NC_000010.9:g.96691609C>T | NCBI36 |
| NG_008385.1:g.8205C>T | |
| NG_008385.2:g.8705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.173C>T MANE Select | ENSP00000260682.6:p.Ser58Leu | |
| ENST00000643112.1:c.173C>T | ENSP00000496202.1:p.Ser58Leu | |
| ENST00000645207.1:n.326C>T | ||
| ENST00000260682.6:c.173C>T | ENSP00000260682.6:p.Ser58Leu | |
| ENST00000461906.1:n.198C>T | ||
| NM_000771.3:c.173C>T | NP_000762.2:p.Ser58Leu | |
| NM_000771.4:c.173C>T MANE Select | NP_000762.2:p.Ser58Leu |