Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155334409C>T , CM000685.2:g.155334409C>T | GRCh38 |
| NC_000023.10:g.154563718C>T , CM000685.1:g.154563718C>T | GRCh37 |
| NC_000023.9:g.154216912C>T | NCBI36 |
| NG_012497.2:g.5269G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001289.6:c.19G>A MANE Select | NP_001280.3:p.Gly7Ser |
| ENST00000369449.7:c.19G>A MANE Select | ENSP00000358460.2:p.Gly7Ser |
| NM_001289.5:c.19G>A | NP_001280.3:p.Gly7Ser |
| ENST00000321926.4:c.19G>A | ENSP00000318558.4:p.Gly7Ser |
| ENST00000369449.6:c.19G>A | ENSP00000358460.2:p.Gly7Ser |
| ENST00000465553.5:n.134G>A | |
| ENST00000491205.1:n.19G>A |