HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3595583T>G , CM000681.2:g.3595583T>G | GRCh38 |
NC_000019.9:g.3595581T>G , CM000681.1:g.3595581T>G | GRCh37 |
NC_000019.8:g.3546581T>G | NCBI36 |
NG_013363.1:g.16251A>C , LRG_578:g.16251A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375190.10:c.*105A>C MANE Select | ENSP00000364336.4:n.*105A>C | |
ENST00000375190.8:c.*105A>C | ENSP00000364336.3:n.*105A>C | |
ENST00000411851.3:c.983+154A>C | ENSP00000393333.2:n.983+154A>C | |
ENST00000589966.1:c.748A>C | ENSP00000468145.1:p.Thr250Pro | |
NM_001060.5:c.*105A>C , LRG_578t1:c.*105A>C | NP_001051.1:n.*105A>C | |
NM_201636.2:c.983+154A>C | NP_963998.2:n.983+154A>C | |
NM_001060.6:c.*105A>C MANE Select | NP_001051.1:n.*105A>C | |
NM_201636.3:c.983+154A>C | NP_963998.2:n.983+154A>C |