HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41621590C>T , CM000679.2:g.41621590C>T | GRCh38 |
NC_000017.10:g.39777842C>T , CM000679.1:g.39777842C>T | GRCh37 |
NC_000017.9:g.37031368C>T | NCBI36 |
NG_008625.1:g.8041G>A | |
NG_009090.2:g.170123G>A , LRG_401:g.170123G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.834+3G>A MANE Select | ENSP00000308452.8:n.834+3G>A | |
ENST00000311208.12:c.834+3G>A | ENSP00000308452.8:n.834+3G>A | |
ENST00000463128.5:c.219+3G>A | ENSP00000468672.1:n.219+3G>A | |
ENST00000493253.5:n.1221+3G>A | ||
ENST00000540235.5:c.585+3G>A | ENSP00000441751.2:n.585+3G>A | |
NM_000422.2:c.834+3G>A | NP_000413.1:n.834+3G>A | |
NM_000422.3:c.834+3G>A MANE Select | NP_000413.1:n.834+3G>A |