HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67932039A>G , CM000666.2:g.67932039A>G | GRCh38 |
NC_000004.11:g.68797757A>G , CM000666.1:g.68797757A>G | GRCh37 |
NC_000004.10:g.68480352A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000508048.6:c.274T>C MANE Select | ENSP00000426911.2:p.Ser92Pro | |
ENST00000334830.11:c.283T>C | ENSP00000334611.7:p.Ser95Pro | |
ENST00000396188.3:c.274T>C | ENSP00000379491.3:p.Ser92Pro | |
ENST00000508048.5:c.274T>C | ENSP00000426911.2:p.Ser92Pro | |
ENST00000513536.5:c.214T>C | ENSP00000427621.1:p.Ser72Pro | |
NM_001114387.1:c.274T>C | NP_001107859.1:p.Ser92Pro | |
NM_182606.3:c.283T>C | NP_872412.3:p.Ser95Pro | |
NM_001114387.2:c.274T>C MANE Select | NP_001107859.1:p.Ser92Pro | |
NM_182606.4:c.283T>C | NP_872412.3:p.Ser95Pro |