Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71456403G>T , CM000673.2:g.71456403G>T | GRCh38 |
| NC_000011.9:g.71167449G>T , CM000673.1:g.71167449G>T | GRCh37 |
| NC_000011.8:g.70845097G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_018161.4:c.146+1233G>T VV | NP_060631.2:p.= | |
| NM_018161.5:c.146+1233G>T VV MANE Preferred | NP_060631.2:p.= | |
| ENST00000319023.6:c.146+1233G>T | ENSP00000326424.2:p.= | |
| ENST00000524949.5:n.212+1233G>T | ||
| ENST00000525200.5:n.46+1233G>T | ||
| ENST00000525245.1:n.87+1233G>T | ||
| ENST00000527538.5:n.202+1233G>T | ||
| ENST00000528509.5:c.146+1233G>T | ENSP00000433472.1:p.= | |
| ENST00000529120.5:c.146+1233G>T | ENSP00000437220.1:p.= | |
| ENST00000533769.5:n.212+1233G>T | ||
| ENST00000534634.5:n.334+1233G>T |