Linked Data
dbSNP Id:
rs147989406
ExAC:
1:115576123 G / C
gnomAD v3:
1-115033502-G-C
gnomAD v4:
1-115033502-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033502G>C , CM000663.2:g.115033502G>C | GRCh38 |
| NC_000001.10:g.115576123G>C , CM000663.1:g.115576123G>C | GRCh37 |
| NC_000001.9:g.115377646G>C | NCBI36 |
| NG_015891.1:g.8709G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.140G>C MANE Select | ENSP00000256592.1:p.Cys47Ser | |
| ENST00000256592.2:c.140G>C | ENSP00000256592.1:p.Cys47Ser | |
| ENST00000369517.1:c.140G>C | ENSP00000358530.1:p.Cys47Ser | |
| NM_000549.4:c.140G>C | NP_000540.2:p.Cys47Ser | |
| XM_011542065.1:c.140G>C | XP_011540367.1:p.Cys47Ser | |
| XM_011542065.2:c.140G>C | XP_011540367.1:p.Cys47Ser | |
| NM_000549.5:c.140G>C MANE Select | NP_000540.2:p.Cys47Ser |