HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75707566T>C , CM000676.2:g.75707566T>C | GRCh38 |
NC_000014.8:g.76173909T>C , CM000676.1:g.76173909T>C | GRCh37 |
NC_000014.7:g.75243662T>C | NCBI36 |
NG_016974.1:g.51359T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000298832.14:c.656-57T>C MANE Select | ENSP00000298832.9:n.656-57T>C | |
ENST00000286650.9:c.656-57T>C | ENSP00000286650.5:n.656-57T>C | |
ENST00000298832.13:c.656-57T>C | ENSP00000298832.9:n.656-57T>C | |
ENST00000555422.5:n.125-57T>C | ||
ENST00000556173.5:n.582-57T>C | ||
ENST00000557636.5:c.656-57T>C | ENSP00000450713.1:n.656-57T>C | |
NM_015072.4:c.656-57T>C | NP_055887.3:n.656-57T>C | |
NM_015072.5:c.656-57T>C MANE Select | NP_055887.3:n.656-57T>C |