Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23445176G>A , CM000678.2:g.23445176G>A | GRCh38 |
| NC_000016.9:g.23456497G>A , CM000678.1:g.23456497G>A | GRCh37 |
| NC_000016.8:g.23363998G>A | NCBI36 |
| NG_021287.1:g.13016C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153603.4:c.319-12C>T MANE Select | NP_705831.1:n.319-12C>T |
| ENST00000307149.10:c.319-12C>T MANE Select | ENSP00000305442.5:n.319-12C>T |
| NM_153603.3:c.319-12C>T | NP_705831.1:n.319-12C>T |
| ENST00000307149.9:c.319-12C>T | ENSP00000305442.5:n.319-12C>T |
| XM_017023870.1:c.124-12C>T | XP_016879359.1:n.124-12C>T |
| XR_002957852.1:n.540-12C>T | |
| XR_429680.1:n.535-12C>T | |
| XR_429680.2:n.540-12C>T |