Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174729374A>C , CM000667.2:g.174729374A>C | GRCh38 |
| NC_000005.9:g.174156377A>C , CM000667.1:g.174156377A>C | GRCh37 |
| NC_000005.8:g.174088983A>C | NCBI36 |
| NG_008124.1:g.9803A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.595A>C MANE Select | ENSP00000239243.5:p.Arg199= | |
| ENST00000239243.6:c.595A>C | ENSP00000239243.5:p.Arg199= | |
| ENST00000507785.2:c.*219A>C | ENSP00000427425.1:n.*219A>C | |
| NM_002449.4:c.595A>C | NP_002440.2:p.Arg199= | |
| NM_001363626.1:c.*219A>C | NP_001350555.1:n.*219A>C | |
| NM_002449.5:c.595A>C MANE Select | NP_002440.2:p.Arg199= | |
| NM_001363626.2:c.*219A>C | NP_001350555.1:n.*219A>C |