Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151688503A>T , CM000668.2:g.151688503A>T | GRCh38 |
| NC_000006.11:g.152009638A>T , CM000668.1:g.152009638A>T | GRCh37 |
| NC_000006.10:g.152051331A>T | NCBI36 |
| NG_008493.1:g.3008A>T | |
| NG_008493.2:g.36813A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001385568.1:c.-201-13372A>T | NP_001372497.1:n.-201-13372A>T |
| ENST00000473497.5:n.74-13372A>T | |
| XM_017010376.1:c.-201-13372A>T | XP_016865865.1:n.-201-13372A>T |
| XM_017010377.1:c.-201-13372A>T | XP_016865866.1:n.-201-13372A>T |
| XM_017010380.1:c.-71+31740A>T | XP_016865869.1:n.-71+31740A>T |