HGVS | Genome Assembly |
---|---|
NC_000011.10:g.45910101T>C , CM000673.2:g.45910101T>C | GRCh38 |
NC_000011.9:g.45931652T>C , CM000673.1:g.45931652T>C | GRCh37 |
NC_000011.8:g.45888228T>C | NCBI36 |
NG_008460.1:g.13023A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378750.10:c.*153A>G MANE Select | ENSP00000368024.5:n.*153A>G | |
ENST00000241041.7:c.1029A>G | ENSP00000241041.3:p.Pro343= | |
NM_004813.2:c.*153A>G | NP_004804.1:n.*153A>G | |
NM_057174.2:c.1029A>G | NP_476515.1:p.Pro343= | |
NM_004813.3:c.*153A>G | NP_004804.1:n.*153A>G | |
NM_004813.4:c.*153A>G MANE Select | NP_004804.2:n.*153A>G | |
NM_057174.3:c.1029A>G | NP_476515.2:p.Pro343= |