Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159897771A>T , CM000668.2:g.159897771A>T | GRCh38 |
| NC_000006.11:g.160318803A>T , CM000668.1:g.160318803A>T | GRCh37 |
| NC_000006.10:g.160238793A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674077.2:c.-243-1415A>T MANE Select | ENSP00000501180.2:n.-243-1415A>T | |
| NM_001366704.1:c.-37+6588A>T | NP_001353633.1:n.-37+6588A>T | |
| NM_002377.3:c.-243-1415A>T | NP_002368.1:n.-243-1415A>T | |
| NM_002377.4:c.-243-1415A>T MANE Select | NP_002368.1:n.-243-1415A>T | |
| NM_001366704.2:c.-37+6588A>T | NP_001353633.1:n.-37+6588A>T |