Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177993002A= , CM000667.2:g.177993002A= | GRCh38 |
| NC_000005.9:g.177420003A= , CM000667.1:g.177420003A= | GRCh37 |
| NC_000005.8:g.177352609A= | NCBI36 |
| NG_015889.1:g.8241T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308304.2:c.388T= MANE Select | ENSP00000311290.2:p.Ser130= | |
| NM_006261.4:c.388T= | NP_006252.3:p.Ser130= | |
| NM_006261.5:c.388T= MANE Select | NP_006252.4:p.Ser130= |