Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44114168G>C , CM000669.2:g.44114168G>C | GRCh38 |
| NC_000007.13:g.44153767G>C , CM000669.1:g.44153767G>C | GRCh37 |
| NC_000007.12:g.44120292G>C | NCBI36 |
| NG_056775.1:g.14849G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.3384G>C MANE Select | NP_001120.3:p.Glu1128Asp |
| ENST00000223357.8:c.3384G>C MANE Select | ENSP00000223357.3:p.Glu1128Asp |
| NM_001129.4:c.3384G>C | NP_001120.3:p.Glu1128Asp |
| ENST00000223357.7:c.3384G>C | ENSP00000223357.3:p.Glu1128Asp |
| ENST00000413907.1:c.1781G>C | |
| ENST00000450684.2:c.2109G>C | ENSP00000398878.2:p.Glu703Asp |
| XM_011515162.1:c.3306G>C | XP_011513464.1:p.Glu1102Asp |