HGVS | Genome Assembly |
---|---|
NC_000016.10:g.31191429G>C , CM000678.2:g.31191429G>C | GRCh38 |
NC_000016.9:g.31202750G>C , CM000678.1:g.31202750G>C | GRCh37 |
NC_000016.8:g.31110251G>C | NCBI36 |
NG_012889.2:g.16298G>C , LRG_655:g.16298G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254108.12:c.1572G>C MANE Select | ENSP00000254108.8:p.Arg524Ser | |
ENST00000254108.11:c.1572G>C | ENSP00000254108.7:p.Arg524Ser | |
ENST00000380244.7:c.1569G>C | ENSP00000369594.3:p.Arg523Ser | |
ENST00000483853.1:n.649G>C | ||
ENST00000487509.6:n.4747G>C | ||
ENST00000566605.5:c.*745G>C | ENSP00000455073.1:n.*745G>C | |
ENST00000568685.1:c.1575G>C | ENSP00000455282.1:p.Arg525Ser | |
ENST00000569760.5:n.463G>C | ||
NM_001170634.1:c.1569G>C | NP_001164105.1:p.Arg523Ser | |
NM_001170937.1:c.1560G>C | NP_001164408.1:p.Arg520Ser | |
NM_004960.3:c.1572G>C , LRG_655t1:c.1572G>C | NP_004951.1:p.Arg524Ser | |
NR_028388.2:n.1642G>C | ||
XM_005255233.3:c.957G>C | XP_005255290.1:p.Arg319Ser | |
XM_011545781.1:c.1566G>C | XP_011544083.1:p.Arg522Ser | |
XM_011545782.1:c.957G>C | XP_011544084.1:p.Arg319Ser | |
XM_005255233.5:c.957G>C | XP_005255290.1:p.Arg319Ser | |
XM_011545782.2:c.957G>C | XP_011544084.1:p.Arg319Ser | |
XM_024450221.1:c.1563G>C | XP_024305989.1:p.Arg521Ser | |
NM_004960.4:c.1572G>C MANE Select | NP_004951.1:p.Arg524Ser |