Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818742T>A , CM000671.2:g.129818742T>A | GRCh38 |
| NC_000009.11:g.132581021T>A , CM000671.1:g.132581021T>A | GRCh37 |
| NC_000009.10:g.131620842T>A | NCBI36 |
| NG_008049.1:g.10421A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.620+3A>T MANE Select | ENSP00000345719.4:n.620+3A>T | |
| ENST00000651202.1:c.716+3A>T | ENSP00000498222.1:n.716+3A>T | |
| ENST00000351698.4:c.620+3A>T | ENSP00000345719.4:n.620+3A>T | |
| ENST00000473604.2:n.730+3A>T | ||
| ENST00000474192.1:n.37+3A>T | ||
| NM_000113.2:c.620+3A>T | NP_000104.1:n.620+3A>T | |
| XR_929731.1:n.780+3A>T | ||
| XR_929731.3:n.648+3A>T | ||
| NM_000113.3:c.620+3A>T MANE Select | NP_000104.1:n.620+3A>T |