Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.38337071C>G , CM000679.2:g.38337071C>G | GRCh38 |
| NC_000017.9:g.33746480C>G | NCBI36 |
| NG_032655.2:g.11740G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004334.4:c.1134G>C MANE Select | NP_001004334.3:p.Ala378= |
| ENST00000616987.5:c.1134G>C MANE Select | ENSP00000483469.2:p.Ala378= |
| NM_001004334.3:c.1134G>C | NP_001004334.3:p.Ala378= |
| ENST00000616987.4:c.1134G>C | ENSP00000483469.1:p.Ala378= |
| ENST00000621958.1:c.1137G>C | ENSP00000480024.1:p.Ala379= |