gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63073089C>T , CM000670.2:g.63073089C>T | GRCh38 |
| NC_000008.10:g.63985648C>T , CM000670.1:g.63985648C>T | GRCh37 |
| NC_000008.9:g.64148202C>T | NCBI36 |
| NG_016123.1:g.17965G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.205-1G>A MANE Select | ENSP00000260116.4:n.205-1G>A | |
| ENST00000260116.4:c.205-1G>A | ENSP00000260116.4:n.205-1G>A | |
| ENST00000521138.1:n.232+12729G>A | ||
| NM_000370.3:c.205-1G>A MANE Select | NP_000361.1:n.205-1G>A | |
| XM_006716468.2:c.205-8773G>A | XP_006716531.1:n.205-8773G>A | |
| XM_006716468.4:c.205-8773G>A | XP_006716531.1:n.205-8773G>A |