HGVS | Genome Assembly |
---|---|
NC_000004.12:g.10041437G>T , CM000666.2:g.10041437G>T | GRCh38 |
NC_000004.11:g.10043061G>T , CM000666.1:g.10043061G>T | GRCh37 |
NC_000004.10:g.9652159G>T | NCBI36 |
NG_011540.1:g.3812C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000506583.5:c.-175-1173C>A | ENSP00000422209.1:n.-175-1173C>A | |
ENST00000513129.1:c.-41+13396C>A | ENSP00000426800.1:n.-41+13396C>A |