HGVS | Genome Assembly |
---|---|
NC_000005.10:g.93585405T>C , CM000667.2:g.93585405T>C | GRCh38 |
NC_000005.9:g.92921111T>C , CM000667.1:g.92921111T>C | GRCh37 |
NC_000005.8:g.92946867T>C | NCBI36 |
NG_034119.1:g.7069T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000615873.2:c.307T>C | ENSP00000481517.1:p.Cys103Arg | |
ENST00000327111.8:c.382T>C MANE Select | ENSP00000325819.3:p.Cys128Arg | |
ENST00000647447.1:c.229T>C | ENSP00000495740.1:p.Cys77Arg | |
ENST00000327111.7:c.382T>C | ENSP00000325819.3:p.Cys128Arg | |
ENST00000615873.1:c.307T>C | ENSP00000481517.1:p.Cys103Arg | |
NM_005654.5:c.382T>C | NP_005645.1:p.Cys128Arg | |
NM_005654.6:c.382T>C MANE Select | NP_005645.1:p.Cys128Arg |