HGVS | Genome Assembly |
---|---|
NC_000014.9:g.52322049T>C , CM000676.2:g.52322049T>C | GRCh38 |
NC_000014.8:g.52788767T>C , CM000676.1:g.52788767T>C | GRCh37 |
NC_000014.7:g.51858517T>C | NCBI36 |
NG_013082.1:g.12752T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245457.6:c.844-5172T>C MANE Select | ENSP00000245457.5:n.844-5172T>C | |
ENST00000245457.5:c.844-5172T>C | ENSP00000245457.5:n.844-5172T>C | |
ENST00000557436.1:c.79-5172T>C | ENSP00000450933.1:n.79-5172T>C | |
NM_000956.3:c.844-5172T>C | NP_000947.2:n.844-5172T>C | |
NM_000956.4:c.844-5172T>C MANE Select | NP_000947.2:n.844-5172T>C |