HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320519A>C , CM000667.2:g.159320519A>C | GRCh38 |
NC_000005.9:g.158747527A>C , CM000667.1:g.158747527A>C | GRCh37 |
NC_000005.8:g.158680105A>C | NCBI36 |
NG_009618.1:g.14955T>G , LRG_71:g.14955T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.-147T>G | ENSP00000512849.1:n.-147T>G | |
ENST00000696751.1:c.366T>G | ENSP00000512850.1:p.Ala122= | |
ENST00000231228.3:c.484T>G MANE Select | ENSP00000231228.2:p.Ser162Ala | |
ENST00000231228.2:c.484T>G | ENSP00000231228.2:p.Ser162Ala | |
NM_002187.2:c.484T>G , LRG_71t1:c.484T>G | NP_002178.2:p.Ser162Ala | |
XR_001742945.1:n.70A>C | ||
NM_002187.3:c.484T>G MANE Select | NP_002178.2:p.Ser162Ala |