Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123630369G>A , CM000674.2:g.123630369G>A | GRCh38 |
| NC_000012.11:g.124114916G>A , CM000674.1:g.124114916G>A | GRCh37 |
| NC_000012.10:g.122680869G>A | NCBI36 |
| NG_015862.1:g.8408C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424014.7:c.252+28C>T MANE Select | ENSP00000416250.2:n.252+28C>T | |
| ENST00000424014.6:c.252+28C>T | ENSP00000416250.2:n.252+28C>T | |
| ENST00000452159.6:n.383+28C>T | ||
| ENST00000534960.5:c.299+28C>T | ||
| ENST00000537073.1:c.252+28C>T | ENSP00000444183.1:n.252+28C>T | |
| ENST00000539951.5:c.213+28C>T | ENSP00000438060.1:n.213+28C>T | |
| ENST00000543940.1:n.352+28C>T | ||
| NM_001414.3:c.252+28C>T | NP_001405.1:n.252+28C>T | |
| NM_001414.4:c.252+28C>T MANE Select | NP_001405.1:n.252+28C>T |