HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35175710A>C , CM000682.2:g.35175710A>C | GRCh38 |
NC_000020.10:g.33763513A>C , CM000682.1:g.33763513A>C | GRCh37 |
NC_000020.9:g.33227174A>C | NCBI36 |
NG_032899.1:g.8740A>C | |
NG_032899.2:g.8740A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216968.5:c.323-458A>C MANE Select | ENSP00000216968.3:n.323-458A>C | |
ENST00000216968.4:c.323-458A>C | ENSP00000216968.3:n.323-458A>C | |
ENST00000635377.1:c.223-458A>C | ||
NM_006404.4:c.323-458A>C | NP_006395.2:n.323-458A>C | |
XM_011528496.1:c.323-458A>C | XP_011526798.1:n.323-458A>C | |
NM_001355008.1:c.-101-9839T>G | NP_001341937.1:n.-101-9839T>G | |
NM_006404.5:c.323-458A>C MANE Select | NP_006395.2:n.323-458A>C | |
NM_001355008.2:c.-101-9839T>G | NP_001341937.1:n.-101-9839T>G |