HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154997076G>T , CM000685.2:g.154997076G>T | GRCh38 |
NC_000023.10:g.154225351G>T , CM000685.1:g.154225351G>T | GRCh37 |
NC_000023.9:g.153878545G>T | NCBI36 |
NG_011403.1:g.30648C>A | |
NG_011403.2:g.30648C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.285C>A MANE Select | ENSP00000353393.4:p.Ile95= | |
ENST00000647125.1:c.*71C>A | ENSP00000496062.1:n.*71C>A | |
ENST00000360256.8:c.285C>A | ENSP00000353393.4:p.Ile95= | |
ENST00000423959.5:c.180C>A | ENSP00000409446.1:p.Ile60= | |
ENST00000453950.1:c.267C>A | ENSP00000389153.1:p.Ile89= | |
NM_000132.3:c.285C>A | NP_000123.1:p.Ile95= | |
XM_011531126.1:c.180C>A | XP_011529428.1:p.Ile60= | |
NM_000132.4:c.285C>A MANE Select | NP_000123.1:p.Ile95= |