Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529099A>G , CM000681.2:g.7529099A>G | GRCh38 |
| NC_000019.9:g.7593985A>G , CM000681.1:g.7593985A>G | GRCh37 |
| NC_000019.8:g.7499985A>G | NCBI36 |
| NG_015806.1:g.11490A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.1135-2A>G MANE Select | NP_065394.1:n.1135-2A>G |
| ENST00000264079.11:c.1135-2A>G MANE Select | ENSP00000264079.5:n.1135-2A>G |
| NM_020533.2:c.1135-2A>G | NP_065394.1:n.1135-2A>G |
| ENST00000264079.10:c.1135-2A>G | ENSP00000264079.5:n.1135-2A>G |
| ENST00000394321.9:n.1450-2A>G | |
| ENST00000594692.1:n.129A>G | |
| ENST00000595860.5:n.318-2A>G | |
| ENST00000599334.1:c.12-2A>G |