Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174725045G>T , CM000667.2:g.174725045G>T | GRCh38 |
| NC_000005.9:g.174152048G>T , CM000667.1:g.174152048G>T | GRCh37 |
| NC_000005.8:g.174084654G>T | NCBI36 |
| NG_008124.1:g.5474G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.379+7G>T MANE Select | ENSP00000239243.5:n.379+7G>T | |
| ENST00000239243.6:c.379+7G>T | ENSP00000239243.5:n.379+7G>T | |
| ENST00000507785.2:c.386G>T | ENSP00000427425.1:p.Cys129Phe | |
| NM_002449.4:c.379+7G>T | NP_002440.2:n.379+7G>T | |
| NM_001363626.1:c.386G>T | NP_001350555.1:p.Cys129Phe | |
| NM_002449.5:c.379+7G>T MANE Select | NP_002440.2:n.379+7G>T | |
| NM_001363626.2:c.386G>T | NP_001350555.1:p.Cys129Phe |