HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160541527C>T , CM000668.2:g.160541527C>T | GRCh38 |
NC_000006.11:g.160962559C>T , CM000668.1:g.160962559C>T | GRCh37 |
NC_000006.10:g.160882549C>T | NCBI36 |
NG_016147.1:g.129849G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000316300.10:c.5520-346G>A MANE Select | ENSP00000321334.6:n.5520-346G>A | |
ENST00000316300.9:c.5520-346G>A | ENSP00000321334.5:n.5520-346G>A | |
NM_005577.2:c.5520-346G>A | NP_005568.2:n.5520-346G>A | |
NM_005577.3:c.5520-346G>A | NP_005568.2:n.5520-346G>A | |
NM_005577.4:c.5520-346G>A MANE Select | NP_005568.2:n.5520-346G>A |