HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55157632A>G , CM000681.2:g.55157632A>G | GRCh38 |
NC_000019.9:g.55669000A>G , CM000681.1:g.55669000A>G | GRCh37 |
NC_000019.8:g.60360812A>G | NCBI36 |
NG_007866.2:g.5101T>C , LRG_432:g.5101T>C | |
NG_032759.1:g.14091T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.-43T>C MANE Select | ENSP00000341838.5:n.-43T>C | |
ENST00000665070.1:c.-43T>C | ENSP00000499482.1:n.-43T>C | |
ENST00000344887.9:c.-43T>C | ENSP00000341838.5:n.-43T>C | |
ENST00000586446.1:n.101T>C | ||
ENST00000587176.5:n.142T>C | ||
ENST00000587871.1:c.578T>C | ||
ENST00000590463.1:n.85T>C | ||
NM_000363.4:c.-43T>C , LRG_432t1:c.-43T>C | NP_000354.4:n.-43T>C | |
NM_000363.5:c.-43T>C MANE Select | NP_000354.4:n.-43T>C |