HGVS | Genome Assembly |
---|---|
NC_000004.12:g.5015166T>C , CM000666.2:g.5015166T>C | GRCh38 |
NC_000004.11:g.5016893T>C , CM000666.1:g.5016893T>C | GRCh37 |
NC_000004.10:g.5067794T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307746.9:c.396A>G MANE Select | ENSP00000303550.4:p.Pro132= | |
ENST00000307746.8:c.396A>G | ENSP00000303550.4:p.Pro132= | |
ENST00000506508.1:c.214A>G | ||
ENST00000509419.1:c.263A>G | ||
NM_018659.2:c.396A>G | NP_061129.1:p.Pro132= | |
XR_925085.1:n.149-4757T>C | ||
XR_925086.1:n.149-4757T>C | ||
XR_925087.1:n.149-4757T>C | ||
XM_017008299.1:c.*46A>G | XP_016863788.1:n.*46A>G | |
NM_018659.3:c.396A>G MANE Select | NP_061129.1:p.Pro132= |