HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74749867A>C , CM000677.2:g.74749867A>C | GRCh38 |
NC_000015.9:g.75042208A>C , CM000677.1:g.75042208A>C | GRCh37 |
NC_000015.8:g.72829261A>C | NCBI36 |
NG_008431.1:g.32326A>C | |
NG_008431.2:g.32326A>C | |
NG_061543.1:g.6023A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343932.5:c.129A>C MANE Select | ENSP00000342007.4:p.Pro43= | |
ENST00000343932.4:c.129A>C | ENSP00000342007.4:p.Pro43= | |
NM_000761.4:c.129A>C | NP_000752.2:p.Pro43= | |
NM_000761.5:c.129A>C MANE Select | NP_000752.2:p.Pro43= |