Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93104049G>T , CM000669.2:g.93104049G>T | GRCh38 |
| NC_000007.13:g.92733362G>T , CM000669.1:g.92733362G>T | GRCh37 |
| NC_000007.12:g.92571298G>T | NCBI36 |
| NG_023419.1:g.18975C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379958.3:c.2049C>A MANE Select | ENSP00000369292.2:p.Phe683Leu | |
| ENST00000379958.2:c.2049C>A | ENSP00000369292.2:p.Phe683Leu | |
| ENST00000446617.1:c.2049C>A | ENSP00000414529.1:p.Phe683Leu | |
| ENST00000620985.4:c.2049C>A | ENSP00000484636.1:p.Phe683Leu | |
| NM_001193307.1:c.2049C>A | NP_001180236.1:p.Phe683Leu | |
| NM_017654.3:c.2049C>A | NP_060124.2:p.Phe683Leu | |
| NM_017654.4:c.2049C>A MANE Select | NP_060124.2:p.Phe683Leu | |
| NM_001193307.2:c.2049C>A | NP_001180236.1:p.Phe683Leu |