Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061650G>A , CM000665.2:g.129061650G>A | GRCh38 |
| NC_000003.11:g.128780493G>A , CM000665.1:g.128780493G>A | GRCh37 |
| NC_000003.10:g.130263183G>A | NCBI36 |
| NG_008715.1:g.5849G>A , LRG_477:g.5849G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.-13+31G>A MANE Select | ENSP00000303942.4:n.-13+31G>A | |
| ENST00000307395.4:c.-13+31G>A | ENSP00000303942.4:n.-13+31G>A | |
| NM_000174.4:c.-13+31G>A , LRG_477t1:c.-13+31G>A | NP_000165.1:n.-13+31G>A | |
| XM_005247374.3:c.-13+31G>A | XP_005247431.1:n.-13+31G>A | |
| XM_011512701.1:c.-13+31G>A | XP_011511003.1:n.-13+31G>A | |
| XM_011512702.1:c.-12-78G>A | XP_011511004.1:n.-12-78G>A | |
| NM_000174.5:c.-13+31G>A MANE Select | NP_000165.1:n.-13+31G>A |