Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128351003T>G , CM000667.2:g.128351003T>G | GRCh38 |
| NC_000005.9:g.127686695T>G , CM000667.1:g.127686695T>G | GRCh37 |
| NC_000005.8:g.127714594T>G | NCBI36 |
| NG_008750.1:g.192041A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.2677A>C MANE Select | NP_001990.2:p.Ser893Arg |
| ENST00000262464.9:c.2677A>C MANE Select | ENSP00000262464.4:p.Ser893Arg |
| NM_001999.3:c.2677A>C | NP_001990.2:p.Ser893Arg |
| ENST00000262464.8:c.2677A>C | ENSP00000262464.4:p.Ser893Arg |
| ENST00000508053.5:c.2677A>C | ENSP00000424571.1:p.Ser893Arg |
| ENST00000508989.5:c.2578A>C | ENSP00000425596.1:p.Ser860Arg |
| ENST00000619499.4:c.2674A>C | ENSP00000482132.1:p.Ser892Arg |
| XM_017009228.2:c.2524A>C | XP_016864717.1:p.Ser842Arg |