Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.640346G>T , CM000673.2:g.640346G>T | GRCh38 |
| NC_000011.9:g.640346G>T , CM000673.1:g.640346G>T | GRCh37 |
| NC_000011.8:g.630346G>T | NCBI36 |
| NG_021241.1:g.8042G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176183.6:c.1057+40G>T MANE Select | ENSP00000176183.5:n.1057+40G>T | |
| ENST00000176183.5:c.1057+40G>T | ENSP00000176183.5:n.1057+40G>T | |
| NM_000797.3:c.1057+40G>T | NP_000788.2:n.1057+40G>T | |
| NM_000797.4:c.1057+40G>T MANE Select | NP_000788.2:n.1057+40G>T |