HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3595485C>T , CM000681.2:g.3595485C>T | GRCh38 |
NC_000019.9:g.3595483C>T , CM000681.1:g.3595483C>T | GRCh37 |
NC_000019.8:g.3546483C>T | NCBI36 |
NG_013363.1:g.16349G>A , LRG_578:g.16349G>A | |
NG_031943.1:g.14915C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375190.10:c.*203G>A MANE Select | ENSP00000364336.4:n.*203G>A | |
ENST00000375190.8:c.*203G>A | ENSP00000364336.3:n.*203G>A | |
ENST00000411851.3:c.983+252G>A | ENSP00000393333.2:n.983+252G>A | |
ENST00000589966.1:c.*66G>A | ENSP00000468145.1:n.*66G>A | |
NM_001060.5:c.*203G>A , LRG_578t1:c.*203G>A | NP_001051.1:n.*203G>A | |
NM_201636.2:c.983+252G>A | NP_963998.2:n.983+252G>A | |
NM_001060.6:c.*203G>A MANE Select | NP_001051.1:n.*203G>A | |
NM_201636.3:c.983+252G>A | NP_963998.2:n.983+252G>A |