Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530203T>G , CM000681.2:g.7530203T>G | GRCh38 |
| NC_000019.9:g.7595089T>G , CM000681.1:g.7595089T>G | GRCh37 |
| NC_000019.8:g.7501089T>G | NCBI36 |
| NG_013374.1:g.1052T>G | |
| NG_015806.1:g.12594T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1360-83T>G MANE Select | ENSP00000264079.5:n.1360-83T>G | |
| ENST00000264079.10:c.1360-83T>G | ENSP00000264079.5:n.1360-83T>G | |
| ENST00000394321.9:n.1675-83T>G | ||
| ENST00000594692.1:n.356-83T>G | ||
| ENST00000595860.5:n.543-83T>G | ||
| ENST00000599334.1:c.237-232T>G | ||
| NM_020533.2:c.1360-83T>G | NP_065394.1:n.1360-83T>G | |
| NM_020533.3:c.1360-83T>G MANE Select | NP_065394.1:n.1360-83T>G |