HGVS | Genome Assembly |
---|---|
NC_000013.11:g.40612320G>C , CM000675.2:g.40612320G>C | GRCh38 |
NC_000013.10:g.41186457G>C , CM000675.1:g.41186457G>C | GRCh37 |
NC_000013.9:g.40084457G>C | NCBI36 |
NG_023244.1:g.59278C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379561.6:c.631-51460C>G MANE Select | ENSP00000368880.4:n.631-51460C>G | |
ENST00000655267.1:n.334-49558C>G | ||
ENST00000660760.1:n.397+20827C>G | ||
ENST00000379561.5:c.631-51460C>G | ENSP00000368880.4:n.631-51460C>G | |
NM_002015.3:c.631-51460C>G | NP_002006.2:n.631-51460C>G | |
XM_011535008.1:c.87+1830C>G | XP_011533310.1:n.87+1830C>G | |
XR_941536.1:n.1226+33019C>G | ||
XM_011535008.2:c.87+1830C>G | XP_011533310.1:n.87+1830C>G | |
NM_002015.4:c.631-51460C>G MANE Select | NP_002006.2:n.631-51460C>G |