Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94850018A>C , CM000672.2:g.94850018A>C | GRCh38 |
| NC_000010.10:g.96609775A>C , CM000672.1:g.96609775A>C | GRCh37 |
| NC_000010.9:g.96599765A>C | NCBI36 |
| NG_008384.2:g.92313A>C | |
| NG_008384.3:g.92338A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.1251A>C MANE Select | NP_000760.1:p.Gly417= |
| ENST00000371321.9:c.1251A>C MANE Select | ENSP00000360372.3:p.Gly417= |
| NM_000769.2:c.1251A>C | NP_000760.1:p.Gly417= |
| ENST00000371321.7:c.1251A>C | ENSP00000360372.3:p.Gly417= |
| ENST00000464755.1:c.2014A>C | ENSP00000483243.1:n.2014A>C |
| ENST00000645461.1:n.2162A>C |