Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774287T>G , CM000683.2:g.43774287T>G | GRCh38 |
| NC_000021.8:g.45194168T>G , CM000683.1:g.45194168T>G | GRCh37 |
| NC_000021.7:g.44018596T>G | NCBI36 |
| NG_011545.1:g.7092A>C , LRG_485:g.7092A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291568.7:c.212A>C MANE Select | ENSP00000291568.6:p.Gln71Pro | |
| ENST00000480147.3:n.1982A>C | ||
| ENST00000639959.1:c.79A>C | ||
| ENST00000640406.1:c.*287A>C | ENSP00000492672.1:n.*287A>C | |
| ENST00000675996.1:n.637A>C | ||
| ENST00000291568.5:c.212A>C | ENSP00000291568.5:p.Gln71Pro | |
| ENST00000480147.1:n.576A>C | ||
| NM_000100.3:c.212A>C , LRG_485t1:c.212A>C | NP_000091.1:p.Gln71Pro | |
| NM_000100.4:c.212A>C MANE Select | NP_000091.1:p.Gln71Pro |