HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110644507A>C , CM000672.2:g.110644507A>C | GRCh38 |
NC_000010.10:g.112404265A>C , CM000672.1:g.112404265A>C | GRCh37 |
NC_000010.9:g.112394255A>C | NCBI36 |
NG_021177.1:g.5111A>C , LRG_382:g.5111A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369519.4:c.53A>C MANE Select | ENSP00000358532.3:p.Gln18Pro | |
ENST00000369519.3:c.53A>C | ENSP00000358532.3:p.Gln18Pro | |
NM_001134363.2:c.53A>C | NP_001127835.2:p.Gln18Pro | |
XM_017016103.2:c.26+1067A>C | XP_016871592.1:n.26+1067A>C | |
NM_001134363.3:c.53A>C MANE Select | NP_001127835.2:p.Gln18Pro |