Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172506513A>T , CM000665.2:g.172506513A>T | GRCh38 |
| NC_000003.11:g.172224303A>T , CM000665.1:g.172224303A>T | GRCh37 |
| NC_000003.10:g.173706997A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241261.7:c.825T>A MANE Select | ENSP00000241261.2:p.Phe275Leu | |
| ENST00000241261.6:c.825T>A | ENSP00000241261.2:p.Phe275Leu | |
| ENST00000420541.6:c.*371T>A | ENSP00000389931.2:n.*371T>A | |
| NM_001190942.1:c.*371T>A | NP_001177871.1:n.*371T>A | |
| NM_003810.3:c.825T>A | NP_003801.1:p.Phe275Leu | |
| NR_033994.1:n.905T>A | ||
| NM_003810.4:c.825T>A MANE Select | NP_003801.1:p.Phe275Leu | |
| NM_001190942.2:c.*371T>A | NP_001177871.1:n.*371T>A | |
| NR_033994.2:n.828T>A |