Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8054236A>C , CM000672.2:g.8054236A>C | GRCh38 |
| NC_000010.10:g.8096199A>C , CM000672.1:g.8096199A>C | GRCh37 |
| NC_000010.9:g.8136205A>C | NCBI36 |
| NG_015859.1:g.4533A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000481743.1:n.175+458A>C | |
| ENST00000481743.2:c.-370+458A>C | ENSP00000493486.1:n.-370+458A>C |
| ENST00000643001.1:c.-369-1051A>C | ENSP00000494284.1:n.-369-1051A>C |
| XM_005252442.2:c.-370+458A>C | XP_005252499.1:n.-370+458A>C |
| XM_005252443.3:c.-369-1051A>C | XP_005252500.1:n.-369-1051A>C |
| XM_005252443.5:c.-369-1051A>C | XP_005252500.1:n.-369-1051A>C |
| XR_001747358.1:n.1121T>G |