HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48468337G>A , CM000677.2:g.48468337G>A | GRCh38 |
NC_000015.9:g.48760534G>A , CM000677.1:g.48760534G>A | GRCh37 |
NC_000015.8:g.46547826G>A | NCBI36 |
NG_008805.2:g.182452C>T , LRG_778:g.182452C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4582+75C>T | ENSP00000453958.2:n.4582+75C>T | |
ENST00000674301.2:c.4582+75C>T | ENSP00000501333.2:n.4582+75C>T | |
ENST00000684448.1:n.3256+75C>T | ||
ENST00000316623.10:c.4582+75C>T MANE Select | ENSP00000325527.5:n.4582+75C>T | |
ENST00000316623.9:c.4582+75C>T | ENSP00000325527.5:n.4582+75C>T | |
ENST00000537463.6:c.*345+75C>T | ENSP00000440294.2:n.*345+75C>T | |
NM_000138.4:c.4582+75C>T , LRG_778t1:c.4582+75C>T | NP_000129.3:n.4582+75C>T | |
NM_000138.5:c.4582+75C>T MANE Select | NP_000129.3:n.4582+75C>T |