HGVS | Genome Assembly |
---|---|
NC_000011.10:g.18033813A>G , CM000673.2:g.18033813A>G | GRCh38 |
NC_000011.9:g.18055360A>G , CM000673.1:g.18055360A>G | GRCh37 |
NC_000011.8:g.18011936A>G | NCBI36 |
NG_011947.1:g.11976T>C | |
NG_011947.2:g.11976T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682019.1:c.302-439T>C MANE Select | ENSP00000508368.1:n.302-439T>C | |
ENST00000250018.6:c.302-439T>C | ENSP00000250018.2:n.302-439T>C | |
ENST00000417164.5:c.302-439T>C | ENSP00000403831.1:n.302-439T>C | |
ENST00000528338.1:c.332-439T>C | ENSP00000436081.1:n.332-439T>C | |
NM_004179.2:c.302-439T>C | NP_004170.1:n.302-439T>C | |
NM_004179.3:c.302-439T>C MANE Select | NP_004170.1:n.302-439T>C |