HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24302021C>G , CM000668.2:g.24302021C>G | GRCh38 |
NC_000006.11:g.24302249C>G , CM000668.1:g.24302249C>G | GRCh37 |
NC_000006.10:g.24410228C>G | NCBI36 |
NG_012829.1:g.61032G>C | |
NG_012829.2:g.86272G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.372G>C MANE Select | ENSP00000367715.3:p.Arg124Ser | |
ENST00000378454.7:c.372G>C | ENSP00000367715.3:p.Arg124Ser | |
NM_001195610.1:c.372G>C | NP_001182539.1:p.Arg124Ser | |
NM_016356.4:c.372G>C | NP_057440.2:p.Arg124Ser | |
NM_016356.5:c.372G>C MANE Select | NP_057440.2:p.Arg124Ser | |
NM_001195610.2:c.372G>C | NP_001182539.1:p.Arg124Ser |