Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107674349G>T , CM000669.2:g.107674349G>T | GRCh38 |
| NC_000007.13:g.107314794G>T , CM000669.1:g.107314794G>T | GRCh37 |
| NC_000007.12:g.107102030G>T | NCBI36 |
| NG_008489.1:g.18715G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000441.2:c.600+1G>T MANE Select | NP_000432.1:n.600+1G>T |
| ENST00000644269.2:c.600+1G>T MANE Select | ENSP00000494017.1:n.600+1G>T |
| NM_000441.1:c.600+1G>T | NP_000432.1:n.600+1G>T |
| ENST00000265715.7:c.600+1G>T | ENSP00000265715.3:n.600+1G>T |
| XM_005250425.1:c.600+1G>T | XP_005250482.1:n.600+1G>T |
| XM_005250425.2:c.600+1G>T | XP_005250482.1:n.600+1G>T |
| XM_006716025.2:c.600+1G>T | XP_006716088.1:n.600+1G>T |
| XM_006716025.3:c.600+1G>T | XP_006716088.1:n.600+1G>T |
| XM_017012318.1:c.600+1G>T | XP_016867807.1:n.600+1G>T |