Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128395182C>T , CM000667.2:g.128395182C>T | GRCh38 |
| NC_000005.9:g.127730875C>T , CM000667.1:g.127730875C>T | GRCh37 |
| NC_000005.8:g.127758774C>T | NCBI36 |
| NG_008750.1:g.147861G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.1171G>A MANE Select | NP_001990.2:p.Glu391Lys |
| ENST00000262464.9:c.1171G>A MANE Select | ENSP00000262464.4:p.Glu391Lys |
| NM_001999.3:c.1171G>A | NP_001990.2:p.Glu391Lys |
| ENST00000262464.8:c.1171G>A | ENSP00000262464.4:p.Glu391Lys |
| ENST00000508053.5:c.1171G>A | ENSP00000424571.1:p.Glu391Lys |
| ENST00000508989.5:c.1072G>A | ENSP00000425596.1:p.Glu358Lys |
| ENST00000619499.4:c.1168G>A | ENSP00000482132.1:p.Glu390Lys |
| ENST00000703787.1:n.878G>A | |
| XM_017009228.2:c.1079-1814G>A | XP_016864717.1:n.1079-1814G>A |