Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134835182G>C , CM000671.2:g.134835182G>C | GRCh38 |
| NC_000009.11:g.137727028G>C , CM000671.1:g.137727028G>C | GRCh37 |
| NC_000009.10:g.136866849G>C | NCBI36 |
| NG_008030.1:g.198377G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5348G>C | ENSP00000360885.4:p.Arg1783Pro | |
| ENST00000371817.8:c.5348G>C MANE Select | ENSP00000360882.3:p.Arg1783Pro | |
| ENST00000371817.7:c.5348G>C | ENSP00000360882.3:p.Arg1783Pro | |
| ENST00000371820.3:c.606G>C | ||
| ENST00000618395.4:c.5348G>C | ENSP00000481360.1:p.Arg1783Pro | |
| NM_000093.4:c.5348G>C | NP_000084.3:p.Arg1783Pro | |
| NM_001278074.1:c.5348G>C | NP_001265003.1:p.Arg1783Pro | |
| NR_103451.2:n.71-14973C>G | ||
| NM_000093.5:c.5348G>C MANE Select | NP_000084.3:p.Arg1783Pro |