Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541451C>G , CM000664.2:g.232541451C>G | GRCh38 |
| NC_000002.11:g.233406161C>G , CM000664.1:g.233406161C>G | GRCh37 |
| NC_000002.10:g.233114405C>G | NCBI36 |
| NG_012954.1:g.6725C>G | |
| NG_012954.2:g.6760C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005199.5:c.428C>G MANE Select | NP_005190.4:p.Pro143Arg |
| ENST00000651502.1:c.428C>G MANE Select | ENSP00000498757.1:p.Pro143Arg |
| NM_005199.4:c.428C>G | NP_005190.4:p.Pro143Arg |
| ENST00000389492.3:c.350+740C>G | ENSP00000374143.3:n.350+740C>G |
| ENST00000389494.7:c.428C>G | ENSP00000374145.3:p.Pro143Arg |
| ENST00000485094.1:n.449C>G |