Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22786752G>C , CM000677.2:g.22786752G>C | GRCh38 |
| NC_000015.9:g.23086316C>G , CM000677.1:g.23086316C>G | GRCh37 |
| NC_000015.8:g.20637757C>G | NCBI36 |
| NG_009056.1:g.5528G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337435.9:c.96G>C MANE Select | ENSP00000337452.4:p.Leu32= | |
| ENST00000337435.8:c.96G>C | ENSP00000337452.4:p.Leu32= | |
| ENST00000437912.6:c.-48+12439G>C | ENSP00000393962.2:n.-48+12439G>C | |
| ENST00000560069.5:n.31+504G>C | ||
| ENST00000561183.5:c.-48+504G>C | ENSP00000453722.1:n.-48+504G>C | |
| NM_001142275.1:c.-48+504G>C | NP_001135747.1:n.-48+504G>C | |
| NM_144599.4:c.96G>C | NP_653200.2:p.Leu32= | |
| NM_144599.5:c.96G>C MANE Select | NP_653200.2:p.Leu32= |