Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40848506G>T , CM000681.2:g.40848506G>T | GRCh38 |
| NC_000019.9:g.41354411G>T , CM000681.1:g.41354411G>T | GRCh37 |
| NC_000019.8:g.46046251G>T | NCBI36 |
| NG_008377.1:g.6942C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.493+108C>A MANE Select | ENSP00000301141.4:n.493+108C>A | |
| ENST00000301141.9:c.493+108C>A | ENSP00000301141.4:n.493+108C>A | |
| ENST00000596719.5:n.344+108C>A | ||
| ENST00000600495.1:c.*305+108C>A | ENSP00000472905.1:n.*305+108C>A | |
| ENST00000601627.1:c.120-43485G>T | ||
| ENST00000610301.1:c.493+108C>A | ENSP00000477899.1:n.493+108C>A | |
| NM_000762.5:c.493+108C>A | NP_000753.3:n.493+108C>A | |
| NM_000762.6:c.493+108C>A MANE Select | NP_000753.3:n.493+108C>A |