Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774321C>T , CM000683.2:g.43774321C>T | GRCh38 |
| NC_000021.8:g.45194202C>T , CM000683.1:g.45194202C>T | GRCh37 |
| NC_000021.7:g.44018630C>T | NCBI36 |
| NG_011545.1:g.7058G>A , LRG_485:g.7058G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000100.4:c.178G>A MANE Select | NP_000091.1:p.Gly60Ser |
| ENST00000291568.7:c.178G>A MANE Select | ENSP00000291568.6:p.Gly60Ser |
| NM_000100.3:c.178G>A , LRG_485t1:c.178G>A | NP_000091.1:p.Gly60Ser |
| ENST00000291568.5:c.178G>A | ENSP00000291568.5:p.Gly60Ser |
| ENST00000480147.1:n.542G>A | |
| ENST00000480147.3:n.1948G>A | |
| ENST00000639959.1:c.45G>A | |
| ENST00000640406.1:c.*253G>A | ENSP00000492672.1:n.*253G>A |
| ENST00000675996.1:n.603G>A |