HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30993288A>T , CM000678.2:g.30993288A>T | GRCh38 |
NC_000016.9:g.31004609A>T , CM000678.1:g.31004609A>T | GRCh37 |
NC_000016.8:g.30912110A>T | NCBI36 |
NG_041829.1:g.22221T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215095.11:c.676-48T>A MANE Select | ENSP00000215095.5:n.676-48T>A | |
ENST00000565419.2:c.676-48T>A | ENSP00000455899.1:n.676-48T>A | |
ENST00000215095.9:c.676-48T>A | ENSP00000215095.5:n.676-48T>A | |
ENST00000565419.1:c.676-48T>A | ENSP00000455899.1:n.676-48T>A | |
ENST00000569638.5:c.424-48T>A | ENSP00000457067.1:n.424-48T>A | |
NM_052874.4:c.676-48T>A | NP_443106.1:n.676-48T>A | |
XM_017022893.1:c.658-48T>A | XP_016878382.1:n.658-48T>A | |
NM_052874.5:c.676-48T>A MANE Select | NP_443106.1:n.676-48T>A |