Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014359G>C , CM000663.2:g.1014359G>C | GRCh38 |
| NC_000001.10:g.949739G>C , CM000663.1:g.949739G>C | GRCh37 |
| NC_000001.9:g.939602G>C | NCBI36 |
| NG_033033.1:g.5893G>C | |
| NG_033033.2:g.18222G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005101.4:c.379G>C MANE Select | NP_005092.1:p.Glu127Gln |
| ENST00000649529.1:c.379G>C MANE Select | ENSP00000496832.1:p.Glu127Gln |
| NM_005101.3:c.379G>C | NP_005092.1:p.Glu127Gln |
| ENST00000379389.4:c.379G>C | ENSP00000368699.4:p.Glu127Gln |
| ENST00000624652.1:c.355G>C | ENSP00000485313.1:p.Glu119Gln |
| ENST00000624697.3:c.355G>C | ENSP00000485643.1:p.Glu119Gln |
| ENST00000624697.4:c.355G>C | ENSP00000485643.1:p.Glu119Gln |