Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61031680T>C , CM000664.2:g.61031680T>C | GRCh38 |
| NC_000002.11:g.61258815T>C , CM000664.1:g.61258815T>C | GRCh37 |
| NC_000002.10:g.61112319T>C | NCBI36 |
| NG_008665.1:g.19004T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002618.4:c.354T>C MANE Select | NP_002609.1:p.Phe118= |
| ENST00000295030.6:c.354T>C MANE Select | ENSP00000295030.4:p.Phe118= |
| NM_002618.3:c.354T>C | NP_002609.1:p.Phe118= |
| ENST00000295030.5:c.354T>C | ENSP00000295030.4:p.Phe118= |
| ENST00000472678.1:n.417T>C | |
| XM_011532904.1:c.237T>C | XP_011531206.1:p.Phe79= |