Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30606953A>T , CM000665.2:g.30606953A>T | GRCh38 |
| NC_000003.11:g.30648445A>T , CM000665.1:g.30648445A>T | GRCh37 |
| NC_000003.10:g.30623449A>T | NCBI36 |
| NG_007490.1:g.5452A>T , LRG_779:g.5452A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003242.6:c.70A>T MANE Select | NP_003233.4:p.Ile24Phe |
| ENST00000295754.10:c.70A>T MANE Select | ENSP00000295754.5:p.Ile24Phe |
| NM_001024847.2:c.70A>T , LRG_779t1:c.70A>T | NP_001020018.1:p.Ile24Phe |
| NM_003242.5:c.70A>T | NP_003233.4:p.Ile24Phe |
| ENST00000295754.9:c.70A>T | ENSP00000295754.5:p.Ile24Phe |
| ENST00000359013.4:c.70A>T | ENSP00000351905.4:p.Ile24Phe |
| XM_011534045.1:c.-12+360A>T | XP_011532347.1:n.-12+360A>T |
| XM_011534045.3:c.-12+360A>T | XP_011532347.1:n.-12+360A>T |