HGVS | Genome Assembly |
---|---|
NC_000001.11:g.197039402A>T , CM000663.2:g.197039402A>T | GRCh38 |
NC_000001.10:g.197008532A>T , CM000663.1:g.197008532A>T | GRCh37 |
NC_000001.9:g.195275155A>T | NCBI36 |
NG_012065.1:g.32866T>A , LRG_550:g.32866T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367412.2:c.1962T>A MANE Select | ENSP00000356382.2:p.Ser654= | |
ENST00000649282.1:c.717T>A | ENSP00000497116.1:p.Ser239= | |
ENST00000367412.1:c.1962T>A | ENSP00000356382.1:p.Ser654= | |
NM_001994.2:c.1962T>A , LRG_550t1:c.1962T>A | NP_001985.2:p.Ser654= | |
XM_011509283.2:c.*897T>A | XP_011507585.1:n.*897T>A | |
XM_011509284.2:c.*897T>A | XP_011507586.1:n.*897T>A | |
XM_011509286.2:c.*897T>A | XP_011507588.1:n.*897T>A | |
NM_001994.3:c.1962T>A MANE Select | NP_001985.2:p.Ser654= |