HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74529336G>C , CM000685.2:g.74529336G>C | GRCh38 |
NC_000023.10:g.73749171G>C , CM000685.1:g.73749171G>C | GRCh37 |
NC_000023.9:g.73665896G>C | NCBI36 |
NG_011641.1:g.113087G>C | |
NG_011641.2:g.113087G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000587091.6:c.1294G>C MANE Select | ENSP00000465734.1:p.Ala432Pro | |
ENST00000636771.1:c.1203G>C | ||
ENST00000587091.5:c.1294G>C | ENSP00000465734.1:p.Ala432Pro | |
ENST00000590447.1:c.611-1997G>C | ||
NM_006517.4:c.1294G>C | NP_006508.2:p.Ala432Pro | |
XM_005262294.1:c.1171-1997G>C | XP_005262351.1:n.1171-1997G>C | |
NM_006517.5:c.1294G>C MANE Select | NP_006508.2:p.Ala432Pro |