HGVS | Genome Assembly |
---|---|
NC_000001.11:g.46399249A>C , CM000663.2:g.46399249A>C | GRCh38 |
NC_000001.10:g.46864921A>C , CM000663.1:g.46864921A>C | GRCh37 |
NC_000001.9:g.46637508A>C | NCBI36 |
NG_012195.1:g.9983A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000243167.9:c.196-2842A>C MANE Select | ENSP00000243167.8:n.196-2842A>C | |
ENST00000243167.8:c.196-2842A>C | ENSP00000243167.8:n.196-2842A>C | |
ENST00000468718.5:n.216-2842A>C | ||
ENST00000493735.5:n.174-2842A>C | ||
NM_001441.2:c.196-2842A>C | NP_001432.2:n.196-2842A>C | |
NM_001441.3:c.196-2842A>C MANE Select | NP_001432.2:n.196-2842A>C |