Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110502729G>C , CM000672.2:g.110502729G>C | GRCh38 |
| NC_000010.10:g.112262487G>C , CM000672.1:g.112262487G>C | GRCh37 |
| NC_000010.9:g.112252477G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004419.4:c.388G>C MANE Select | NP_004410.3:p.Glu130Gln |
| ENST00000369583.4:c.388G>C MANE Select | ENSP00000358596.3:p.Glu130Gln |
| NM_004419.3:c.388G>C | NP_004410.3:p.Glu130Gln |
| ENST00000369583.3:c.388G>C | ENSP00000358596.3:p.Glu130Gln |