Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61031830T>C , CM000664.2:g.61031830T>C | GRCh38 |
| NC_000002.11:g.61258965T>C , CM000664.1:g.61258965T>C | GRCh37 |
| NC_000002.10:g.61112469T>C | NCBI36 |
| NG_008665.1:g.19154T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002618.4:c.504T>C MANE Select | NP_002609.1:p.Phe168= |
| ENST00000295030.6:c.504T>C MANE Select | ENSP00000295030.4:p.Phe168= |
| NM_002618.3:c.504T>C | NP_002609.1:p.Phe168= |
| ENST00000295030.5:c.504T>C | ENSP00000295030.4:p.Phe168= |
| ENST00000472678.1:n.567T>C | |
| XM_011532904.1:c.387T>C | XP_011531206.1:p.Phe129= |