HGVS | Genome Assembly |
---|---|
NC_000014.9:g.52322094G>T , CM000676.2:g.52322094G>T | GRCh38 |
NC_000014.8:g.52788812G>T , CM000676.1:g.52788812G>T | GRCh37 |
NC_000014.7:g.51858562G>T | NCBI36 |
NG_013082.1:g.12797G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245457.6:c.844-5127G>T MANE Select | ENSP00000245457.5:n.844-5127G>T | |
ENST00000245457.5:c.844-5127G>T | ENSP00000245457.5:n.844-5127G>T | |
ENST00000557436.1:c.79-5127G>T | ENSP00000450933.1:n.79-5127G>T | |
NM_000956.3:c.844-5127G>T | NP_000947.2:n.844-5127G>T | |
NM_000956.4:c.844-5127G>T MANE Select | NP_000947.2:n.844-5127G>T |