Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43773868C>T , CM000683.2:g.43773868C>T | GRCh38 |
| NC_000021.8:g.45193749C>T , CM000683.1:g.45193749C>T | GRCh37 |
| NC_000021.7:g.44018177C>T | NCBI36 |
| NG_011545.1:g.7511G>A , LRG_485:g.7511G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000100.3:c.*334G>A , LRG_485t1:c.*334G>A | NP_000091.1:n.*334G>A |
| ENST00000291568.5:c.*334G>A | ENSP00000291568.5:n.*334G>A |
| ENST00000480147.3:n.2401G>A | |
| ENST00000639959.1:c.498G>A | |
| ENST00000640406.1:c.*706G>A | ENSP00000492672.1:n.*706G>A |
| ENST00000675996.1:n.1056G>A |