Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23886484A>G , CM000675.2:g.23886484A>G | GRCh38 |
| NC_000013.10:g.24460623A>G , CM000675.1:g.24460623A>G | GRCh37 |
| NC_000013.9:g.23358623A>G | NCBI36 |
| NG_052977.1:g.7965T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005932.4:c.212T>C MANE Select | NP_005923.3:p.Leu71Pro |
| ENST00000382172.4:c.212T>C MANE Select | ENSP00000371607.3:p.Leu71Pro |
| NM_005932.3:c.212T>C | NP_005923.2:p.Leu71Pro |
| ENST00000382172.3:c.212T>C | ENSP00000371607.3:p.Leu71Pro |
| ENST00000469167.1:n.744T>C | |
| XM_011535097.1:c.26T>C | XP_011533399.1:p.Leu9Pro |
| XM_011535097.2:c.26T>C | XP_011533399.1:p.Leu9Pro |
| XM_011535098.1:c.212T>C | XP_011533400.1:p.Leu71Pro |
| XM_011535098.3:c.212T>C | XP_011533400.1:p.Leu71Pro |