HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73914838T>C , CM000664.2:g.73914838T>C | GRCh38 |
NC_000002.11:g.74141965T>C , CM000664.1:g.74141965T>C | GRCh37 |
NC_000002.10:g.73995473T>C | NCBI36 |
NG_034140.1:g.26873T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345517.8:c.772T>C MANE Select | ENSP00000295137.3:p.Cys258Arg | |
ENST00000345517.7:c.772T>C | ENSP00000295137.3:p.Cys258Arg | |
ENST00000409624.1:c.772T>C | ENSP00000386857.1:p.Cys258Arg | |
ENST00000409731.7:c.643T>C | ENSP00000386929.3:p.Cys215Arg | |
ENST00000438902.6:c.*837T>C | ENSP00000410706.2:n.*837T>C | |
NM_001199893.1:c.643T>C | NP_001186822.1:p.Cys215Arg | |
NM_001615.3:c.772T>C | NP_001606.1:p.Cys258Arg | |
NM_001199893.2:c.643T>C | NP_001186822.1:p.Cys215Arg | |
NM_001615.4:c.772T>C MANE Select | NP_001606.1:p.Cys258Arg |