Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30606983T>G , CM000665.2:g.30606983T>G | GRCh38 |
| NC_000003.11:g.30648475T>G , CM000665.1:g.30648475T>G | GRCh37 |
| NC_000003.10:g.30623479T>G | NCBI36 |
| NG_007490.1:g.5482T>G , LRG_779:g.5482T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003242.6:c.94+6T>G MANE Select | NP_003233.4:n.94+6T>G |
| ENST00000295754.10:c.94+6T>G MANE Select | ENSP00000295754.5:n.94+6T>G |
| NM_001024847.2:c.94+6T>G , LRG_779t1:c.94+6T>G | NP_001020018.1:n.94+6T>G |
| NM_003242.5:c.94+6T>G | NP_003233.4:n.94+6T>G |
| ENST00000295754.9:c.94+6T>G | ENSP00000295754.5:n.94+6T>G |
| ENST00000359013.4:c.94+6T>G | ENSP00000351905.4:n.94+6T>G |
| XM_011534045.1:c.-12+390T>G | XP_011532347.1:n.-12+390T>G |
| XM_011534045.3:c.-12+390T>G | XP_011532347.1:n.-12+390T>G |