HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256276C>A , CM000679.2:g.34256276C>A | GRCh38 |
NC_000017.10:g.32583295C>A , CM000679.1:g.32583295C>A | GRCh37 |
NC_000017.9:g.29607408C>A | NCBI36 |
NG_012123.1:g.6000C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000580907.6:c.131C>A | ENSP00000462156.1:p.Ser44Ter | |
ENST00000624362.2:n.992C>A | ||
ENST00000225831.4:c.131C>A MANE Select | ENSP00000225831.4:p.Ser44Ter | |
ENST00000580907.5:c.131C>A | ENSP00000462156.1:p.Ser44Ter | |
ENST00000582017.1:n.69C>A | ||
NM_002982.3:c.131C>A | NP_002973.1:p.Ser44Ter | |
NM_002982.4:c.131C>A MANE Select | NP_002973.1:p.Ser44Ter |