Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.73570410G>T , CM000665.2:g.73570410G>T | GRCh38 |
| NC_000003.11:g.73619561G>T , CM000665.1:g.73619561G>T | GRCh37 |
| NC_000003.10:g.73702251G>T | NCBI36 |
| NG_047128.1:g.59512C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015009.3:c.918+31944C>A MANE Select | NP_055824.1:n.918+31944C>A |
| ENST00000263666.9:c.918+31944C>A MANE Select | ENSP00000263666.4:n.918+31944C>A |
| NM_015009.2:c.918+31944C>A | NP_055824.1:n.918+31944C>A |
| ENST00000263666.8:c.918+31944C>A | ENSP00000263666.4:n.918+31944C>A |
| ENST00000308537.4:c.918+31944C>A | ENSP00000308831.4:n.918+31944C>A |
| XM_017005942.2:c.831+31944C>A | XP_016861431.1:n.831+31944C>A |