Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96057343A>T , CM000668.2:g.96057343A>T | GRCh38 |
| NC_000006.11:g.96505219A>T , CM000668.1:g.96505219A>T | GRCh37 |
| NC_000006.10:g.96611940A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006581.4:c.-98+41131A>T MANE Select | NP_006572.2:n.-98+41131A>T |
| ENST00000302103.6:c.-98+41131A>T MANE Select | ENSP00000302599.4:n.-98+41131A>T |
| NM_006581.3:c.-98+41131A>T | NP_006572.2:n.-98+41131A>T |
| ENST00000302103.5:c.-98+41131A>T | ENSP00000302599.4:n.-98+41131A>T |
| XM_011535384.1:c.-98+36370A>T | XP_011533686.1:n.-98+36370A>T |
| XM_017010190.1:c.-215+41131A>T | XP_016865679.1:n.-215+41131A>T |
| XR_001744267.2:n.1915T>A |