HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154996742C>A , CM000685.2:g.154996742C>A | GRCh38 |
NC_000023.10:g.154225017C>A , CM000685.1:g.154225017C>A | GRCh37 |
NC_000023.9:g.153878211C>A | NCBI36 |
NG_011403.1:g.30982G>T | |
NG_011403.2:g.30982G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.388+231G>T MANE Select | ENSP00000353393.4:n.388+231G>T | |
ENST00000647125.1:c.*174+231G>T | ENSP00000496062.1:n.*174+231G>T | |
ENST00000360256.8:c.388+231G>T | ENSP00000353393.4:n.388+231G>T | |
ENST00000423959.5:c.283+231G>T | ENSP00000409446.1:n.283+231G>T | |
ENST00000453950.1:c.370+231G>T | ENSP00000389153.1:n.370+231G>T | |
NM_000132.3:c.388+231G>T | NP_000123.1:n.388+231G>T | |
XM_011531126.1:c.283+231G>T | XP_011529428.1:n.283+231G>T | |
NM_000132.4:c.388+231G>T MANE Select | NP_000123.1:n.388+231G>T |