Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153776112C>T , CM000685.2:g.153776112C>T | GRCh38 |
| NC_000023.10:g.153041567C>T , CM000685.1:g.153041567C>T | GRCh37 |
| NC_000023.9:g.152694761C>T | NCBI36 |
| NG_013255.1:g.16917C>T | |
| NG_016329.1:g.112C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005393.3:c.4627C>T MANE Select | NP_005384.2:p.Leu1543Phe |
| ENST00000361971.10:c.4627C>T MANE Select | ENSP00000355378.5:p.Leu1543Phe |
| NM_001163257.1:c.4696C>T | NP_001156729.1:p.Leu1566Phe |
| NM_001163257.2:c.4696C>T | NP_001156729.1:p.Leu1566Phe |
| NM_005393.2:c.4627C>T | NP_005384.2:p.Leu1543Phe |
| ENST00000361971.9:c.4627C>T | ENSP00000355378.5:p.Leu1543Phe |
| ENST00000411613.5:c.600+144C>T | |
| ENST00000455214.1:c.137C>T | |
| ENST00000482654.1:n.571C>T | |
| ENST00000538966.5:c.4696C>T | ENSP00000442736.1:p.Leu1566Phe |