Linked Data
dbSNP Id:
rs1348792026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658483G>A , CM000682.2:g.10658483G>A | GRCh38 |
| NC_000020.10:g.10639131G>A , CM000682.1:g.10639131G>A | GRCh37 |
| NC_000020.9:g.10587131G>A | NCBI36 |
| NG_007496.1:g.20564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.679C>T MANE Select | ENSP00000254958.4:p.Pro227Ser | |
| ENST00000254958.9:c.679C>T | ENSP00000254958.4:p.Pro227Ser | |
| ENST00000423891.6:n.545C>T | ||
| NM_000214.2:c.679C>T | NP_000205.1:p.Pro227Ser | |
| NM_000214.3:c.679C>T MANE Select | NP_000205.1:p.Pro227Ser |