HGVS | Genome Assembly |
---|---|
NC_000004.12:g.122617757C>T , CM000666.2:g.122617757C>T | GRCh38 |
NC_000004.11:g.123538912C>T , CM000666.1:g.123538912C>T | GRCh37 |
NC_000004.10:g.123758362C>T | NCBI36 |
NG_031966.1:g.8301G>A | |
NG_031966.2:g.8310G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000611104.2:c.205-1920G>A | ENSP00000477555.1:n.205-1920G>A | |
ENST00000647784.1:n.56+1082G>A | ||
ENST00000648588.1:c.205-1920G>A MANE Select | ENSP00000497915.1:n.205-1920G>A | |
ENST00000264497.7:c.205-1920G>A | ENSP00000264497.3:n.205-1920G>A | |
ENST00000611104.1:c.205-1920G>A | ENSP00000477555.1:n.205-1920G>A | |
NM_001207006.2:c.205-1920G>A | NP_001193935.1:n.205-1920G>A | |
NM_021803.3:c.205-1920G>A | NP_068575.1:n.205-1920G>A | |
NM_021803.4:c.205-1920G>A MANE Select | NP_068575.1:n.205-1920G>A | |
NM_001207006.3:c.205-1920G>A | NP_001193935.1:n.205-1920G>A |