HGVS | Genome Assembly |
---|---|
NC_000001.11:g.119753312A>G , CM000663.2:g.119753312A>G | GRCh38 |
NC_000001.10:g.120295935A>G , CM000663.1:g.120295935A>G | GRCh37 |
NC_000001.9:g.120097458A>G | NCBI36 |
NG_013348.1:g.20621T>C , LRG_447:g.20621T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369406.8:c.1262T>C MANE Select | ENSP00000358414.3:p.Phe421Ser | |
ENST00000369406.7:c.1262T>C | ENSP00000358414.3:p.Phe421Ser | |
ENST00000544913.2:c.1136T>C | ENSP00000439495.2:p.Phe379Ser | |
NM_001166107.1:c.1136T>C , LRG_447t2:c.1136T>C | NP_001159579.1:p.Phe379Ser | |
NM_005518.3:c.1262T>C , LRG_447t1:c.1262T>C | NP_005509.1:p.Phe421Ser | |
XM_011541313.1:c.1097T>C | XP_011539615.1:p.Phe366Ser | |
XM_011541313.2:c.1097T>C | XP_011539615.1:p.Phe366Ser | |
NM_005518.4:c.1262T>C MANE Select | NP_005509.1:p.Phe421Ser |