Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128345412G>A , CM000667.2:g.128345412G>A | GRCh38 |
| NC_000005.9:g.127681104G>A , CM000667.1:g.127681104G>A | GRCh37 |
| NC_000005.8:g.127709003G>A | NCBI36 |
| NG_008750.1:g.197632C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.3162C>T MANE Select | NP_001990.2:p.Arg1054= |
| ENST00000262464.9:c.3162C>T MANE Select | ENSP00000262464.4:p.Arg1054= |
| NM_001999.3:c.3162C>T | NP_001990.2:p.Arg1054= |
| ENST00000262464.8:c.3162C>T | ENSP00000262464.4:p.Arg1054= |
| ENST00000508053.5:c.3162C>T | ENSP00000424571.1:p.Arg1054= |
| ENST00000508989.5:c.3063C>T | ENSP00000425596.1:p.Arg1021= |
| ENST00000619499.4:c.3159C>T | ENSP00000482132.1:p.Arg1053= |
| XM_017009228.2:c.3009C>T | XP_016864717.1:p.Arg1003= |