HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34255898C>G , CM000679.2:g.34255898C>G | GRCh38 |
NC_000017.10:g.32582917C>G , CM000679.1:g.32582917C>G | GRCh37 |
NC_000017.9:g.29607030C>G | NCBI36 |
NG_012123.1:g.5622C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000580907.6:c.77-324C>G | ENSP00000462156.1:n.77-324C>G | |
ENST00000624362.2:n.614C>G | ||
ENST00000225831.4:c.77-324C>G MANE Select | ENSP00000225831.4:n.77-324C>G | |
ENST00000580907.5:c.77-324C>G | ENSP00000462156.1:n.77-324C>G | |
ENST00000624362.1:n.681C>G | ||
NM_002982.3:c.77-324C>G | NP_002973.1:n.77-324C>G | |
NM_002982.4:c.77-324C>G MANE Select | NP_002973.1:n.77-324C>G |