HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64758604T>G , CM000673.2:g.64758604T>G | GRCh38 |
NC_000011.9:g.64526076T>G , CM000673.1:g.64526076T>G | GRCh37 |
NC_000011.8:g.64282652T>G | NCBI36 |
NG_013018.1:g.7112A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000164139.4:c.344A>C MANE Select | ENSP00000164139.3:p.Gln115Pro | |
ENST00000164139.3:c.344A>C | ENSP00000164139.3:p.Gln115Pro | |
ENST00000377432.7:c.244-338A>C | ENSP00000366650.3:n.244-338A>C | |
NM_001164716.1:c.244-338A>C | NP_001158188.1:n.244-338A>C | |
NM_005609.2:c.344A>C | NP_005600.1:p.Gln115Pro | |
NM_005609.3:c.344A>C | NP_005600.1:p.Gln115Pro | |
NM_005609.4:c.344A>C MANE Select | NP_005600.1:p.Gln115Pro |