HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110644608C>G , CM000672.2:g.110644608C>G | GRCh38 |
NC_000010.10:g.112404366C>G , CM000672.1:g.112404366C>G | GRCh37 |
NC_000010.9:g.112394356C>G | NCBI36 |
NG_021177.1:g.5212C>G , LRG_382:g.5212C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369519.4:c.154C>G MANE Select | ENSP00000358532.3:p.Pro52Ala | |
ENST00000369519.3:c.154C>G | ENSP00000358532.3:p.Pro52Ala | |
NM_001134363.2:c.154C>G | NP_001127835.2:p.Pro52Ala | |
XM_017016103.2:c.26+1168C>G | XP_016871592.1:n.26+1168C>G | |
NM_001134363.3:c.154C>G MANE Select | NP_001127835.2:p.Pro52Ala |