Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48488482A>T , CM000677.2:g.48488482A>T | GRCh38 |
| NC_000015.9:g.48780679A>T , CM000677.1:g.48780679A>T | GRCh37 |
| NC_000015.8:g.46567971A>T | NCBI36 |
| NG_008805.2:g.162307T>A , LRG_778:g.162307T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.3094T>A MANE Select | NP_000129.3:p.Cys1032Ser |
| ENST00000316623.10:c.3094T>A MANE Select | ENSP00000325527.5:p.Cys1032Ser |
| NM_000138.4:c.3094T>A , LRG_778t1:c.3094T>A | NP_000129.3:p.Cys1032Ser |
| ENST00000316623.9:c.3094T>A | ENSP00000325527.5:p.Cys1032Ser |
| ENST00000537463.6:c.637-13832T>A | ENSP00000440294.2:n.637-13832T>A |
| ENST00000559133.6:c.3094T>A | ENSP00000453958.2:p.Cys1032Ser |
| ENST00000674301.2:c.3094T>A | ENSP00000501333.2:p.Cys1032Ser |
| ENST00000684448.1:n.1768T>A |