Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354352G>C , CM000666.2:g.40354352G>C | GRCh38 |
| NC_000004.11:g.40356369G>C , CM000666.1:g.40356369G>C | GRCh37 |
| NC_000004.10:g.40051126G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1272G>C MANE Select | ENSP00000312663.2:p.Leu424= | |
| ENST00000310169.2:c.1272G>C | ENSP00000312663.2:p.Leu424= | |
| NM_017581.3:c.1272G>C | NP_060051.2:p.Leu424= | |
| NM_017581.4:c.1272G>C MANE Select | NP_060051.2:p.Leu424= |