Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18399937C>A , CM000670.2:g.18399937C>A | GRCh38 |
| NC_000008.10:g.18257447C>A , CM000670.1:g.18257447C>A | GRCh37 |
| NC_000008.9:g.18301727C>A | NCBI36 |
| NG_012246.1:g.13693C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.-6-61C>A MANE Select | ENSP00000286479.3:n.-6-61C>A | |
| ENST00000286479.3:c.-6-61C>A | ENSP00000286479.3:n.-6-61C>A | |
| ENST00000520116.1:c.-57-400C>A | ENSP00000428416.1:n.-57-400C>A | |
| NM_000015.2:c.-6-61C>A | NP_000006.2:n.-6-61C>A | |
| XM_011544358.1:c.-6-61C>A | XP_011542660.1:n.-6-61C>A | |
| XM_017012938.1:c.-6-61C>A | XP_016868427.1:n.-6-61C>A | |
| NM_000015.3:c.-6-61C>A MANE Select | NP_000006.2:n.-6-61C>A |