HGVS | Genome Assembly |
---|---|
NC_000005.10:g.93585288T>C , CM000667.2:g.93585288T>C | GRCh38 |
NC_000005.9:g.92920994T>C , CM000667.1:g.92920994T>C | GRCh37 |
NC_000005.8:g.92946750T>C | NCBI36 |
NG_034119.1:g.6952T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000615873.2:c.190T>C | ENSP00000481517.1:p.Cys64Arg | |
ENST00000327111.8:c.265T>C MANE Select | ENSP00000325819.3:p.Cys89Arg | |
ENST00000647447.1:c.112T>C | ENSP00000495740.1:p.Cys38Arg | |
ENST00000327111.7:c.265T>C | ENSP00000325819.3:p.Cys89Arg | |
ENST00000615873.1:c.190T>C | ENSP00000481517.1:p.Cys64Arg | |
NM_005654.5:c.265T>C | NP_005645.1:p.Cys89Arg | |
NM_005654.6:c.265T>C MANE Select | NP_005645.1:p.Cys89Arg |