Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120428577T>C , CM000685.2:g.120428577T>C | GRCh38 |
| NC_000023.10:g.119562432T>C , CM000685.1:g.119562432T>C | GRCh37 |
| NC_000023.9:g.119446460T>C | NCBI36 |
| NG_007995.1:g.45773A>G , LRG_749:g.45773A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200639.9:c.*2746A>G MANE Select | ENSP00000200639.4:n.*2746A>G | |
| ENST00000434600.6:c.1143A>G | ENSP00000408411.2:p.Ala381= | |
| NM_001122606.1:c.1143A>G , LRG_749t3:c.1143A>G | NP_001116078.1:p.Ala381= | |
| NM_002294.2:c.*2746A>G , LRG_749t1:c.*2746A>G | NP_002285.1:n.*2746A>G | |
| NM_002294.3:c.*2746A>G MANE Select | NP_002285.1:n.*2746A>G |