Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128278806G>T , CM000667.2:g.128278806G>T | GRCh38 |
| NC_000005.9:g.127614498G>T , CM000667.1:g.127614498G>T | GRCh37 |
| NC_000005.8:g.127642397G>T | NCBI36 |
| NG_008750.1:g.264238C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.7174C>A MANE Select | NP_001990.2:p.Gln2392Lys |
| ENST00000262464.9:c.7174C>A MANE Select | ENSP00000262464.4:p.Gln2392Lys |
| NM_001999.3:c.7174C>A | NP_001990.2:p.Gln2392Lys |
| ENST00000262464.8:c.7174C>A | ENSP00000262464.4:p.Gln2392Lys |
| ENST00000508053.5:c.7174C>A | ENSP00000424571.1:p.Gln2392Lys |
| ENST00000619499.4:c.7171C>A | ENSP00000482132.1:p.Gln2391Lys |
| ENST00000703783.1:n.3958C>A | |
| XM_017009228.2:c.7021C>A | XP_016864717.1:p.Gln2341Lys |