Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128392068C>T , CM000667.2:g.128392068C>T | GRCh38 |
| NC_000005.9:g.127727761C>T , CM000667.1:g.127727761C>T | GRCh37 |
| NC_000005.8:g.127755660C>T | NCBI36 |
| NG_008750.1:g.150975G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.1553G>A MANE Select | NP_001990.2:p.Arg518Gln |
| ENST00000262464.9:c.1553G>A MANE Select | ENSP00000262464.4:p.Arg518Gln |
| NM_001999.3:c.1553G>A | NP_001990.2:p.Arg518Gln |
| ENST00000262464.8:c.1553G>A | ENSP00000262464.4:p.Arg518Gln |
| ENST00000508053.5:c.1553G>A | ENSP00000424571.1:p.Arg518Gln |
| ENST00000508989.5:c.1454G>A | ENSP00000425596.1:p.Arg485Gln |
| ENST00000619499.4:c.1550G>A | ENSP00000482132.1:p.Arg517Gln |
| ENST00000703787.1:n.1260G>A | |
| XM_017009228.2:c.1400G>A | XP_016864717.1:p.Arg467Gln |