HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48476724A>C , CM000675.2:g.48476724A>C | GRCh38 |
NC_000013.10:g.49050860A>C , CM000675.1:g.49050860A>C | GRCh37 |
NC_000013.9:g.47948861A>C | NCBI36 |
NG_009009.1:g.177978A>C , LRG_517:g.177978A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.2544A>C MANE Select | ENSP00000267163.4:p.Ile848= | |
ENST00000643064.1:c.194+95281A>C | ||
ENST00000650461.1:c.2544A>C | ENSP00000497193.1:p.Ile848= | |
ENST00000267163.4:c.2544A>C | ENSP00000267163.4:p.Ile848= | |
ENST00000484879.1:n.278A>C | ||
ENST00000531171.5:n.147A>C | ||
NM_000321.2:c.2544A>C , LRG_517t1:c.2544A>C | NP_000312.2:p.Ile848= | |
XM_011535171.1:c.2283A>C | XP_011533473.1:p.Ile761= | |
XM_011535171.2:c.2283A>C | XP_011533473.1:p.Ile761= | |
NM_000321.3:c.2544A>C MANE Select | NP_000312.2:p.Ile848= |