Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8072842G>T , CM000679.2:g.8072842G>T | GRCh38 |
| NC_000017.10:g.7976160G>T , CM000679.1:g.7976160G>T | GRCh37 |
| NC_000017.9:g.7916885G>T | NCBI36 |
| NG_007099.1:g.19862C>A | |
| NG_007099.2:g.19875C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.2035C>A MANE Select | NP_001130.1:p.Arg679Ser |
| ENST00000647874.1:c.2035C>A MANE Select | ENSP00000497784.1:p.Arg679Ser |
| NM_001139.2:c.2035C>A | NP_001130.1:p.Arg679Ser |
| ENST00000319144.4:c.2035C>A | ENSP00000315167.4:p.Arg679Ser |
| ENST00000649809.1:c.1099C>A | ENSP00000496845.1:p.Arg367Ser |
| ENST00000650441.1:n.458C>A |