HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48348971A>T , CM000675.2:g.48348971A>T | GRCh38 |
NC_000013.10:g.48923107A>T , CM000675.1:g.48923107A>T | GRCh37 |
NC_000013.9:g.47821108A>T | NCBI36 |
NG_009009.1:g.50225A>T , LRG_517:g.50225A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.555A>T MANE Select | ENSP00000267163.4:p.Ile185= | |
ENST00000650461.1:c.555A>T | ENSP00000497193.1:p.Ile185= | |
ENST00000267163.4:c.555A>T | ENSP00000267163.4:p.Ile185= | |
ENST00000467505.5:c.138-11046A>T | ENSP00000434702.1:n.138-11046A>T | |
ENST00000525036.1:n.717A>T | ||
NM_000321.2:c.555A>T , LRG_517t1:c.555A>T | NP_000312.2:p.Ile185= | |
XM_011535171.1:c.294A>T | XP_011533473.1:p.Ile98= | |
XM_011535171.2:c.294A>T | XP_011533473.1:p.Ile98= | |
NM_000321.3:c.555A>T MANE Select | NP_000312.2:p.Ile185= |