HGVS | Genome Assembly |
---|---|
NC_000023.11:g.80674617C>T , CM000685.2:g.80674617C>T | GRCh38 |
NC_000023.10:g.79930116C>T , CM000685.1:g.79930116C>T | GRCh37 |
NC_000023.9:g.79816772C>T | NCBI36 |
NG_021349.1:g.140118G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000373275.5:c.*1992G>A MANE Select | ENSP00000362372.4:n.*1992G>A | |
ENST00000373275.4:c.*1992G>A | ENSP00000362372.4:n.*1992G>A | |
NM_153252.4:c.*1992G>A | NP_694984.4:n.*1992G>A | |
XM_005262113.2:c.*1992G>A | XP_005262170.1:n.*1992G>A | |
XM_011530903.1:c.*1992G>A | XP_011529205.1:n.*1992G>A | |
XM_011530904.1:c.*1992G>A | XP_011529206.1:n.*1992G>A | |
XM_005262113.3:c.*1992G>A | XP_005262170.1:n.*1992G>A | |
NM_153252.5:c.*1992G>A MANE Select | NP_694984.5:n.*1992G>A |