Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26402105G>C , CM000664.2:g.26402105G>C | GRCh38 |
| NC_000002.11:g.26624973G>C , CM000664.1:g.26624973G>C | GRCh37 |
| NC_000002.10:g.26478477G>C | NCBI36 |
| NG_042824.1:g.5194G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145038.5:c.116G>C MANE Select | NP_659475.2:p.Arg39Pro |
| ENST00000288710.7:c.116G>C MANE Select | ENSP00000288710.2:p.Arg39Pro |
| NM_145038.3:c.116G>C | NP_659475.2:p.Arg39Pro |
| NM_145038.4:c.116G>C | NP_659475.2:p.Arg39Pro |
| ENST00000288710.6:c.116G>C | ENSP00000288710.2:p.Arg39Pro |
| ENST00000421869.5:c.116G>C | ENSP00000414375.1:p.Arg39Pro |
| ENST00000649059.1:c.102G>C | |
| XM_005264637.3:c.-319G>C | XP_005264694.1:n.-319G>C |
| XM_017005271.1:c.-765G>C | XP_016860760.1:n.-765G>C |
| XM_024453218.1:c.-581G>C | XP_024308986.1:n.-581G>C |