HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57133346C>T , CM000674.2:g.57133346C>T | GRCh38 |
NC_000012.11:g.57527129C>T , CM000674.1:g.57527129C>T | GRCh37 |
NC_000012.10:g.55813396C>T | NCBI36 |
NG_016444.1:g.9848C>T | |
NG_021272.2:g.3794G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000243077.8:c.67+4315C>T MANE Select | ENSP00000243077.3:n.67+4315C>T | |
ENST00000243077.7:c.67+4315C>T | ENSP00000243077.3:n.67+4315C>T | |
ENST00000338962.8:c.67+4315C>T | ENSP00000341264.4:n.67+4315C>T | |
ENST00000553277.5:c.67+4315C>T | ENSP00000451449.1:n.67+4315C>T | |
ENST00000554174.1:c.67+4315C>T | ENSP00000451737.1:n.67+4315C>T | |
NM_002332.2:c.67+4315C>T | NP_002323.2:n.67+4315C>T | |
XM_017019303.1:c.67+4315C>T | XP_016874792.1:n.67+4315C>T | |
NM_002332.3:c.67+4315C>T MANE Select | NP_002323.2:n.67+4315C>T |