HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49459288A>C , CM000668.2:g.49459288A>C | GRCh38 |
NC_000006.11:g.49427001A>C , CM000668.1:g.49427001A>C | GRCh37 |
NC_000006.10:g.49534960A>C | NCBI36 |
NG_007100.1:g.8852T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.179T>G MANE Select | ENSP00000274813.3:p.Ile60Arg | |
ENST00000274813.3:c.179T>G | ENSP00000274813.3:p.Ile60Arg | |
NM_000255.3:c.179T>G | NP_000246.2:p.Ile60Arg | |
XM_005249143.2:c.179T>G | XP_005249200.1:p.Ile60Arg | |
XM_005249143.3:c.179T>G | XP_005249200.1:p.Ile60Arg | |
NM_000255.4:c.179T>G MANE Select | NP_000246.2:p.Ile60Arg |