Linked Data
MyVariant Identifiers:
chr1:g.15772169C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445674C>A , CM000663.2:g.15445674C>A | GRCh38 |
| NC_000001.10:g.15772169C>A , CM000663.1:g.15772169C>A | GRCh37 |
| NC_000001.9:g.15644756C>A | NCBI36 |
| NG_009253.1:g.12232C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.717C>A MANE Select | ENSP00000365116.4:p.Ser239= | |
| ENST00000375943.6:c.*171C>A | ENSP00000365110.2:n.*171C>A | |
| ENST00000375949.4:c.717C>A | ENSP00000365116.4:p.Ser239= | |
| ENST00000483406.1:n.481C>A | ||
| NM_007272.2:c.717C>A | NP_009203.2:p.Ser239= | |
| XM_011540550.1:c.571C>A | XP_011538852.1:p.Pro191Thr | |
| NM_007272.3:c.717C>A MANE Select | NP_009203.2:p.Ser239= |