Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774267T>G , CM000683.2:g.43774267T>G | GRCh38 |
| NC_000021.8:g.45194148T>G , CM000683.1:g.45194148T>G | GRCh37 |
| NC_000021.7:g.44018576T>G | NCBI36 |
| NG_011545.1:g.7112A>C , LRG_485:g.7112A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.232A>C MANE Select | ENSP00000291568.6:p.Lys78Gln | |
| ENST00000480147.3:n.2002A>C | ||
| ENST00000639959.1:c.99A>C | ||
| ENST00000640406.1:c.*307A>C | ENSP00000492672.1:n.*307A>C | |
| ENST00000675996.1:n.657A>C | ||
| ENST00000291568.5:c.232A>C | ENSP00000291568.5:p.Lys78Gln | |
| ENST00000480147.1:n.596A>C | ||
| NM_000100.3:c.232A>C , LRG_485t1:c.232A>C | NP_000091.1:p.Lys78Gln | |
| NM_000100.4:c.232A>C MANE Select | NP_000091.1:p.Lys78Gln |