HGVS | Genome Assembly |
---|---|
NC_000004.12:g.163324253T>G , CM000666.2:g.163324253T>G | GRCh38 |
NC_000004.11:g.164245405T>G , CM000666.1:g.164245405T>G | GRCh37 |
NC_000004.10:g.164464855T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296533.3:c.*1050A>C MANE Select | ENSP00000354652.2:n.*1050A>C | |
ENST00000296533.2:c.*1050A>C | ENSP00000354652.2:n.*1050A>C | |
NM_000909.5:c.*1050A>C | NP_000900.1:n.*1050A>C | |
XM_005263031.2:c.*1050A>C | XP_005263088.1:n.*1050A>C | |
XM_011532010.1:c.*1050A>C | XP_011530312.1:n.*1050A>C | |
XM_005263031.4:c.*1050A>C | XP_005263088.1:n.*1050A>C | |
XM_011532010.3:c.*1050A>C | XP_011530312.1:n.*1050A>C | |
NM_000909.6:c.*1050A>C MANE Select | NP_000900.1:n.*1050A>C |