Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774204A>G , CM000683.2:g.43774204A>G | GRCh38 |
| NC_000021.8:g.45194085A>G , CM000683.1:g.45194085A>G | GRCh37 |
| NC_000021.7:g.44018513A>G | NCBI36 |
| NG_011545.1:g.7175T>C , LRG_485:g.7175T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000100.4:c.295T>C MANE Select | NP_000091.1:p.Ter99Arg |
| ENST00000291568.7:c.295T>C MANE Select | ENSP00000291568.6:p.Ter99Arg |
| NM_000100.3:c.295T>C , LRG_485t1:c.295T>C | NP_000091.1:p.Ter99Arg |
| ENST00000291568.5:c.295T>C | ENSP00000291568.5:p.Ter99Arg |
| ENST00000480147.1:n.659T>C | |
| ENST00000480147.3:n.2065T>C | |
| ENST00000639959.1:c.162T>C | |
| ENST00000640406.1:c.*370T>C | ENSP00000492672.1:n.*370T>C |
| ENST00000675996.1:n.720T>C |