Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133348724C>A , CM000671.2:g.133348724C>A | GRCh38 |
| NC_000009.10:g.135205400C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323345.11:c.4-198C>A MANE Select | ENSP00000361076.3:n.4-198C>A | |
| ENST00000323345.10:c.4-198C>A | ENSP00000361076.3:n.4-198C>A | |
| ENST00000426651.1:c.-10C>A | ENSP00000416638.1:n.-10C>A | |
| ENST00000463740.5:n.30-198C>A | ||
| ENST00000468019.5:n.138-198C>A | ||
| ENST00000496554.5:n.356+151C>A | ||
| NM_000972.2:c.4-198C>A | NP_000963.1:n.4-198C>A | |
| NM_000972.3:c.4-198C>A MANE Select | NP_000963.1:n.4-198C>A |