Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35498438G>T , CM000668.2:g.35498438G>T | GRCh38 |
| NC_000006.11:g.35466215G>T , CM000668.1:g.35466215G>T | GRCh37 |
| NC_000006.10:g.35574193G>T | NCBI36 |
| NG_009077.1:g.19433C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003322.6:c.1518C>A MANE Select | NP_003313.3:p.Phe506Leu |
| ENST00000229771.11:c.1518C>A MANE Select | ENSP00000229771.6:p.Phe506Leu |
| NM_001289395.1:c.1359C>A | NP_001276324.1:p.Phe453Leu |
| NM_001289395.2:c.1359C>A | NP_001276324.1:p.Phe453Leu |
| NM_003322.4:c.1518C>A | NP_003313.3:p.Phe506Leu |
| NM_003322.5:c.1518C>A | NP_003313.3:p.Phe506Leu |
| ENST00000229771.10:c.1518C>A | ENSP00000229771.6:p.Phe506Leu |
| ENST00000322263.8:c.1359C>A | ENSP00000319414.4:p.Phe453Leu |
| ENST00000614066.4:c.1512C>A | ENSP00000477534.1:p.Phe504Leu |