HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49457757A>G , CM000668.2:g.49457757A>G | GRCh38 |
NC_000006.11:g.49425470A>G , CM000668.1:g.49425470A>G | GRCh37 |
NC_000006.10:g.49533429A>G | NCBI36 |
NG_007100.1:g.10383T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.687T>C MANE Select | ENSP00000274813.3:p.Asn229= | |
ENST00000274813.3:c.687T>C | ENSP00000274813.3:p.Asn229= | |
NM_000255.3:c.687T>C | NP_000246.2:p.Asn229= | |
XM_005249143.2:c.687T>C | XP_005249200.1:p.Asn229= | |
XM_005249143.3:c.687T>C | XP_005249200.1:p.Asn229= | |
NM_000255.4:c.687T>C MANE Select | NP_000246.2:p.Asn229= |