HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3595577C>G , CM000681.2:g.3595577C>G | GRCh38 |
NC_000019.9:g.3595575C>G , CM000681.1:g.3595575C>G | GRCh37 |
NC_000019.8:g.3546575C>G | NCBI36 |
NG_013363.1:g.16257G>C , LRG_578:g.16257G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375190.10:c.*111G>C MANE Select | ENSP00000364336.4:n.*111G>C | |
ENST00000375190.8:c.*111G>C | ENSP00000364336.3:n.*111G>C | |
ENST00000411851.3:c.983+160G>C | ENSP00000393333.2:n.983+160G>C | |
ENST00000589966.1:c.754G>C | ENSP00000468145.1:p.Gly252Arg | |
NM_001060.5:c.*111G>C , LRG_578t1:c.*111G>C | NP_001051.1:n.*111G>C | |
NM_201636.2:c.983+160G>C | NP_963998.2:n.983+160G>C | |
NM_001060.6:c.*111G>C MANE Select | NP_001051.1:n.*111G>C | |
NM_201636.3:c.983+160G>C | NP_963998.2:n.983+160G>C |