HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19939319T>G , CM000670.2:g.19939319T>G | GRCh38 |
NC_000008.10:g.19796830T>G , CM000670.1:g.19796830T>G | GRCh37 |
NC_000008.9:g.19841110T>G | NCBI36 |
NG_008855.1:g.5249T>G | |
NG_008855.2:g.42603T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.-122T>G MANE Select | ENSP00000497642.1:n.-122T>G | |
ENST00000311322.8:c.-122T>G | ENSP00000309757.6:n.-122T>G | |
ENST00000519773.1:c.-122T>G | ENSP00000431028.1:n.-122T>G | |
ENST00000520959.5:c.-140-8861T>G | ENSP00000428496.1:n.-140-8861T>G | |
ENST00000521994.1:n.64T>G | ||
ENST00000522701.5:c.-122T>G | ENSP00000428557.1:n.-122T>G | |
ENST00000524029.5:c.-122T>G | ENSP00000428237.1:n.-122T>G | |
NM_000237.2:c.-122T>G | NP_000228.1:n.-122T>G | |
NM_000237.3:c.-122T>G MANE Select | NP_000228.1:n.-122T>G |