Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128395210C>A , CM000667.2:g.128395210C>A | GRCh38 |
| NC_000005.9:g.127730903C>A , CM000667.1:g.127730903C>A | GRCh37 |
| NC_000005.8:g.127758802C>A | NCBI36 |
| NG_008750.1:g.147833G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.1143G>T MANE Select | NP_001990.2:p.Gly381= |
| ENST00000262464.9:c.1143G>T MANE Select | ENSP00000262464.4:p.Gly381= |
| NM_001999.3:c.1143G>T | NP_001990.2:p.Gly381= |
| ENST00000262464.8:c.1143G>T | ENSP00000262464.4:p.Gly381= |
| ENST00000508053.5:c.1143G>T | ENSP00000424571.1:p.Gly381= |
| ENST00000508989.5:c.1044G>T | ENSP00000425596.1:p.Gly348= |
| ENST00000619499.4:c.1140G>T | ENSP00000482132.1:p.Gly380= |
| ENST00000703787.1:n.850G>T | |
| XM_017009228.2:c.1079-1842G>T | XP_016864717.1:n.1079-1842G>T |