HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42544224G>C , CM000679.2:g.42544224G>C | GRCh38 |
NC_000017.10:g.40696242G>C , CM000679.1:g.40696242G>C | GRCh37 |
NC_000017.9:g.37949768G>C | NCBI36 |
NG_011552.1:g.13292G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225927.7:c.2218G>C MANE Select | ENSP00000225927.1:p.Ala740Pro | |
ENST00000225927.6:c.2218G>C | ENSP00000225927.1:p.Ala740Pro | |
NM_000263.3:c.2218G>C | NP_000254.2:p.Ala740Pro | |
XM_006721920.2:c.1387G>C | XP_006721983.1:p.Ala463Pro | |
XM_011524840.1:c.1219G>C | XP_011523142.1:p.Ala407Pro | |
XM_017024687.1:c.1387G>C | XP_016880176.1:p.Ala463Pro | |
XM_024450771.1:c.2275G>C | XP_024306539.1:p.Ala759Pro | |
XM_024450772.1:c.1219G>C | XP_024306540.1:p.Ala407Pro | |
NM_000263.4:c.2218G>C MANE Select | NP_000254.2:p.Ala740Pro |