HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73914847A>C , CM000664.2:g.73914847A>C | GRCh38 |
NC_000002.11:g.74141974A>C , CM000664.1:g.74141974A>C | GRCh37 |
NC_000002.10:g.73995482A>C | NCBI36 |
NG_034140.1:g.26882A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000345517.8:c.781A>C MANE Select | ENSP00000295137.3:p.Thr261Pro | |
ENST00000345517.7:c.781A>C | ENSP00000295137.3:p.Thr261Pro | |
ENST00000409624.1:c.781A>C | ENSP00000386857.1:p.Thr261Pro | |
ENST00000409731.7:c.652A>C | ENSP00000386929.3:p.Thr218Pro | |
ENST00000438902.6:c.*846A>C | ENSP00000410706.2:n.*846A>C | |
NM_001199893.1:c.652A>C | NP_001186822.1:p.Thr218Pro | |
NM_001615.3:c.781A>C | NP_001606.1:p.Thr261Pro | |
NM_001199893.2:c.652A>C | NP_001186822.1:p.Thr218Pro | |
NM_001615.4:c.781A>C MANE Select | NP_001606.1:p.Thr261Pro |