HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3595575G>A , CM000681.2:g.3595575G>A | GRCh38 |
NC_000019.9:g.3595573G>A , CM000681.1:g.3595573G>A | GRCh37 |
NC_000019.8:g.3546573G>A | NCBI36 |
NG_013363.1:g.16259C>T , LRG_578:g.16259C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375190.10:c.*113C>T MANE Select | ENSP00000364336.4:n.*113C>T | |
ENST00000375190.8:c.*113C>T | ENSP00000364336.3:n.*113C>T | |
ENST00000411851.3:c.983+162C>T | ENSP00000393333.2:n.983+162C>T | |
ENST00000589966.1:c.756C>T | ENSP00000468145.1:p.Gly252= | |
NM_001060.5:c.*113C>T , LRG_578t1:c.*113C>T | NP_001051.1:n.*113C>T | |
NM_201636.2:c.983+162C>T | NP_963998.2:n.983+162C>T | |
NM_001060.6:c.*113C>T MANE Select | NP_001051.1:n.*113C>T | |
NM_201636.3:c.983+162C>T | NP_963998.2:n.983+162C>T |