Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775484G>C , CM000672.2:g.94775484G>C | GRCh38 |
| NC_000010.10:g.96535241G>C , CM000672.1:g.96535241G>C | GRCh37 |
| NC_000010.9:g.96525231G>C | NCBI36 |
| NG_008384.2:g.17779G>C | |
| NG_008384.3:g.17804G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.426G>C MANE Select | ENSP00000360372.3:p.Glu142Asp | |
| ENST00000645461.1:n.1479G>C | ||
| ENST00000371321.7:c.426G>C | ENSP00000360372.3:p.Glu142Asp | |
| ENST00000464755.1:c.1189G>C | ENSP00000483243.1:n.1189G>C | |
| ENST00000480405.2:c.426G>C | ENSP00000483847.1:p.Glu142Asp | |
| NM_000769.2:c.426G>C | NP_000760.1:p.Glu142Asp | |
| NM_000769.4:c.426G>C MANE Select | NP_000760.1:p.Glu142Asp |