Linked Data
dbSNP Id:
rs201897242
ExAC:
5:35873746 C / A
gnomAD v2:
5-35873746-C-A
gnomAD v4:
5-35873644-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35873644C>A , CM000667.2:g.35873644C>A | GRCh38 |
| NC_000005.9:g.35873746C>A , CM000667.1:g.35873746C>A | GRCh37 |
| NC_000005.8:g.35909503C>A | NCBI36 |
| NG_009567.1:g.21756C>A , LRG_74:g.21756C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.702C>A MANE Select | ENSP00000306157.3:p.Ser234Arg | |
| ENST00000303115.7:c.702C>A | ENSP00000306157.3:p.Ser234Arg | |
| ENST00000505093.1:c.111C>A | ENSP00000426069.1:p.Ser37Arg | |
| ENST00000506850.5:c.702C>A | ENSP00000421207.1:p.Ser234Arg | |
| ENST00000509668.1:n.444C>A | ||
| ENST00000514217.5:c.538-1868C>A | ENSP00000427688.1:n.538-1868C>A | |
| NM_002185.3:c.702C>A | NP_002176.2:p.Ser234Arg | |
| NR_120485.1:n.641-1868C>A | ||
| XM_005248299.2:c.702C>A | XP_005248356.1:p.Ser234Arg | |
| XM_005248300.1:c.702C>A | XP_005248357.1:p.Ser234Arg | |
| XM_011514037.1:c.702C>A | XP_011512339.1:p.Ser234Arg | |
| NM_002185.4:c.702C>A | NP_002176.2:p.Ser234Arg | |
| NR_120485.2:n.667-1868C>A | ||
| XM_005248299.4:c.702C>A | XP_005248356.1:p.Ser234Arg | |
| NM_002185.5:c.702C>A MANE Select | NP_002176.2:p.Ser234Arg | |
| NR_120485.3:n.625-1868C>A |