Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.677897A>C , CM000667.2:g.677897A>C | GRCh38 |
| NC_000005.9:g.678012A>C , CM000667.1:g.678012A>C | GRCh37 |
| NC_000005.8:g.731012A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360578.7:c.164T>G MANE Select | ENSP00000353785.5:p.Phe55Cys | |
| ENST00000360578.6:c.164T>G | ENSP00000353785.5:p.Phe55Cys | |
| NM_007030.2:c.164T>G | NP_008961.1:p.Phe55Cys | |
| XM_005248237.2:c.164T>G | XP_005248294.2:p.Phe55Cys | |
| XM_005248237.3:c.164T>G | XP_005248294.2:p.Phe55Cys | |
| XM_017008993.1:c.365T>G | XP_016864482.1:p.Phe122Cys | |
| XM_024454346.1:c.164T>G | XP_024310114.1:p.Phe55Cys | |
| NM_007030.3:c.164T>G MANE Select | NP_008961.1:p.Phe55Cys |