HGVS | Genome Assembly |
---|---|
NC_000022.11:g.30242237T>G , CM000684.2:g.30242237T>G | GRCh38 |
NC_000022.10:g.30638226T>G , CM000684.1:g.30638226T>G | GRCh37 |
NC_000022.9:g.28968226T>G | NCBI36 |
NG_008721.1:g.9571A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249075.4:c.*1414A>C MANE Select | ENSP00000249075.3:n.*1414A>C | |
ENST00000249075.3:c.*1414A>C | ENSP00000249075.3:n.*1414A>C | |
NM_001257135.1:c.*1577A>C | NP_001244064.1:n.*1577A>C | |
NM_002309.4:c.*1414A>C | NP_002300.1:n.*1414A>C | |
XM_006724240.2:c.*1414A>C | XP_006724303.1:n.*1414A>C | |
XM_011530172.1:c.*1414A>C | XP_011528474.1:n.*1414A>C | |
XM_024452239.1:c.*1414A>C | XP_024308007.1:n.*1414A>C | |
XM_024452240.1:c.*1414A>C | XP_024308008.1:n.*1414A>C | |
NM_002309.5:c.*1414A>C MANE Select | NP_002300.1:n.*1414A>C | |
NM_001257135.2:c.*1577A>C | NP_001244064.1:n.*1577A>C |