Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96429259C>G , CM000667.2:g.96429259C>G | GRCh38 |
| NC_000005.9:g.95764963C>G , CM000667.1:g.95764963C>G | GRCh37 |
| NC_000005.8:g.95790719C>G | NCBI36 |
| NG_021161.1:g.9023G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000439.5:c.239G>C MANE Select | NP_000430.3:p.Arg80Pro |
| ENST00000311106.8:c.239G>C MANE Select | ENSP00000308024.2:p.Arg80Pro |
| NM_000439.4:c.239G>C | NP_000430.3:p.Arg80Pro |
| NM_001177875.1:c.98G>C | NP_001171346.1:p.Arg33Pro |
| NM_001177875.2:c.98G>C | NP_001171346.1:p.Arg33Pro |
| NR_130776.1:n.354+49607C>G | |
| ENST00000311106.7:c.239G>C | ENSP00000308024.2:p.Arg80Pro |
| ENST00000508626.5:c.98G>C | ENSP00000421600.1:p.Arg33Pro |
| ENST00000509190.1:c.239G>C | ENSP00000427294.1:p.Arg80Pro |