HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49457754T>C , CM000668.2:g.49457754T>C | GRCh38 |
NC_000006.11:g.49425467T>C , CM000668.1:g.49425467T>C | GRCh37 |
NC_000006.10:g.49533426T>C | NCBI36 |
NG_007100.1:g.10386A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.690A>G MANE Select | ENSP00000274813.3:p.Thr230= | |
ENST00000274813.3:c.690A>G | ENSP00000274813.3:p.Thr230= | |
NM_000255.3:c.690A>G | NP_000246.2:p.Thr230= | |
XM_005249143.2:c.690A>G | XP_005249200.1:p.Thr230= | |
XM_005249143.3:c.690A>G | XP_005249200.1:p.Thr230= | |
NM_000255.4:c.690A>G MANE Select | NP_000246.2:p.Thr230= |