HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154992933T>G , CM000685.2:g.154992933T>G | GRCh38 |
NC_000023.10:g.154221208T>G , CM000685.1:g.154221208T>G | GRCh37 |
NC_000023.9:g.153874402T>G | NCBI36 |
NG_011403.1:g.34791A>C | |
NG_011403.2:g.34791A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.601+3A>C MANE Select | ENSP00000353393.4:n.601+3A>C | |
ENST00000647125.1:c.*387+3A>C | ENSP00000496062.1:n.*387+3A>C | |
ENST00000360256.8:c.601+3A>C | ENSP00000353393.4:n.601+3A>C | |
ENST00000423959.5:c.496+3A>C | ENSP00000409446.1:n.496+3A>C | |
NM_000132.3:c.601+3A>C | NP_000123.1:n.601+3A>C | |
XM_011531126.1:c.496+3A>C | XP_011529428.1:n.496+3A>C | |
NM_000132.4:c.601+3A>C MANE Select | NP_000123.1:n.601+3A>C |