HGVS | Genome Assembly |
---|---|
NC_000001.11:g.108875108G>T , CM000663.2:g.108875108G>T | GRCh38 |
NC_000001.10:g.109417730G>T , CM000663.1:g.109417730G>T | GRCh37 |
NC_000001.9:g.109219253G>T | NCBI36 |
NG_028108.1:g.3128G>T | |
NG_028108.2:g.4759G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000357393.6:c.1-25532C>A | ENSP00000349968.6:n.1-25532C>A | |
ENST00000357393.5:c.115-25532C>A | ENSP00000349968.5:n.115-25532C>A | |
XR_001738178.1:n.103+32C>A |