Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924226G>T , CM000675.2:g.27924226G>T | GRCh38 |
| NC_000013.10:g.28498363G>T , CM000675.1:g.28498363G>T | GRCh37 |
| NC_000013.9:g.27396363G>T | NCBI36 |
| NG_008183.1:g.9196G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.407-30G>T MANE Select | ENSP00000370421.4:n.407-30G>T | |
| ENST00000381033.4:c.407-30G>T | ENSP00000370421.4:n.407-30G>T | |
| NM_000209.3:c.407-30G>T | NP_000200.1:n.407-30G>T | |
| XR_941578.1:n.3534-30G>T | ||
| XR_941579.1:n.2133-30G>T | ||
| XR_941580.1:n.1049-30G>T | ||
| XR_941578.2:n.3546-30G>T | ||
| XR_941580.2:n.1061-30G>T | ||
| NM_000209.4:c.407-30G>T MANE Select | NP_000200.1:n.407-30G>T |