Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172506515A>G , CM000665.2:g.172506515A>G | GRCh38 |
| NC_000003.11:g.172224305A>G , CM000665.1:g.172224305A>G | GRCh37 |
| NC_000003.10:g.173706999A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241261.7:c.823T>C MANE Select | ENSP00000241261.2:p.Phe275Leu | |
| ENST00000241261.6:c.823T>C | ENSP00000241261.2:p.Phe275Leu | |
| ENST00000420541.6:c.*369T>C | ENSP00000389931.2:n.*369T>C | |
| NM_001190942.1:c.*369T>C | NP_001177871.1:n.*369T>C | |
| NM_003810.3:c.823T>C | NP_003801.1:p.Phe275Leu | |
| NR_033994.1:n.903T>C | ||
| NM_003810.4:c.823T>C MANE Select | NP_003801.1:p.Phe275Leu | |
| NM_001190942.2:c.*369T>C | NP_001177871.1:n.*369T>C | |
| NR_033994.2:n.826T>C |