HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44379618G>A , CM000679.2:g.44379618G>A | GRCh38 |
NC_000017.10:g.42456986G>A , CM000679.1:g.42456986G>A | GRCh37 |
NC_000017.9:g.39812512G>A | NCBI36 |
NG_008331.1:g.14888C>T , LRG_479:g.14888C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262407.6:c.1878+71C>T MANE Select | ENSP00000262407.5:n.1878+71C>T | |
ENST00000648408.1:c.1309+71C>T | ||
ENST00000262407.5:c.1878+71C>T | ENSP00000262407.5:n.1878+71C>T | |
ENST00000592462.5:n.673+71C>T | ||
NM_000419.3:c.1878+71C>T , LRG_479t1:c.1878+71C>T | NP_000410.2:n.1878+71C>T | |
XM_011524749.1:c.1878+71C>T | XP_011523051.1:n.1878+71C>T | |
XM_011524750.1:c.1878+71C>T | XP_011523052.1:n.1878+71C>T | |
NM_000419.4:c.1878+71C>T | NP_000410.2:n.1878+71C>T | |
NM_000419.5:c.1878+71C>T MANE Select | NP_000410.2:n.1878+71C>T |