HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21816683A>C , CM000669.2:g.21816683A>C | GRCh38 |
NC_000007.13:g.21856301A>C , CM000669.1:g.21856301A>C | GRCh37 |
NC_000007.12:g.21822826A>C | NCBI36 |
NG_012886.2:g.278469A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.10549A>C MANE Select | ENSP00000475939.1:p.Thr3517Pro | |
ENST00000328843.10:c.10570A>C | ENSP00000330671.7:p.Thr3524Pro | |
ENST00000409508.7:c.10549A>C | ENSP00000475939.1:p.Thr3517Pro | |
ENST00000620169.4:c.10570A>C | ENSP00000481693.1:p.Thr3524Pro | |
NM_001277115.1:c.10549A>C | NP_001264044.1:p.Thr3517Pro | |
NM_001277115.2:c.10549A>C MANE Select | NP_001264044.1:p.Thr3517Pro |