HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48476835A>C , CM000675.2:g.48476835A>C | GRCh38 |
NC_000013.10:g.49050971A>C , CM000675.1:g.49050971A>C | GRCh37 |
NC_000013.9:g.47948972A>C | NCBI36 |
NG_009009.1:g.178089A>C , LRG_517:g.178089A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.2655A>C MANE Select | ENSP00000267163.4:p.Ala885= | |
ENST00000643064.1:c.194+95392A>C | ||
ENST00000650461.1:c.2655A>C | ENSP00000497193.1:p.Ala885= | |
ENST00000267163.4:c.2655A>C | ENSP00000267163.4:p.Ala885= | |
ENST00000484879.1:n.389A>C | ||
ENST00000531171.5:n.258A>C | ||
NM_000321.2:c.2655A>C , LRG_517t1:c.2655A>C | NP_000312.2:p.Ala885= | |
XM_011535171.1:c.2394A>C | XP_011533473.1:p.Ala798= | |
XM_011535171.2:c.2394A>C | XP_011533473.1:p.Ala798= | |
NM_000321.3:c.2655A>C MANE Select | NP_000312.2:p.Ala885= |