HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7654516C>T , CM000679.2:g.7654516C>T | GRCh38 |
NC_000017.10:g.7557834C>T , CM000679.1:g.7557834C>T | GRCh37 |
NC_000017.9:g.7498559C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000250111.9:c.553-112C>T MANE Select | ENSP00000250111.4:n.553-112C>T | |
ENST00000250111.8:c.553-112C>T | ENSP00000250111.4:n.553-112C>T | |
ENST00000577026.5:c.307-112C>T | ENSP00000459145.1:n.307-112C>T | |
ENST00000577113.1:c.150-112C>T | ||
NM_001303263.1:c.307-112C>T | NP_001290192.1:n.307-112C>T | |
NM_001678.4:c.553-112C>T | NP_001669.3:n.553-112C>T | |
NM_001678.5:c.553-112C>T MANE Select | NP_001669.3:n.553-112C>T | |
NM_001303263.2:c.307-112C>T | NP_001290192.1:n.307-112C>T |