HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48468373C>T , CM000677.2:g.48468373C>T | GRCh38 |
NC_000015.9:g.48760570C>T , CM000677.1:g.48760570C>T | GRCh37 |
NC_000015.8:g.46547862C>T | NCBI36 |
NG_008805.2:g.182416G>A , LRG_778:g.182416G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.4582+39G>A | ENSP00000453958.2:n.4582+39G>A | |
ENST00000674301.2:c.4582+39G>A | ENSP00000501333.2:n.4582+39G>A | |
ENST00000684448.1:n.3256+39G>A | ||
ENST00000316623.10:c.4582+39G>A MANE Select | ENSP00000325527.5:n.4582+39G>A | |
ENST00000316623.9:c.4582+39G>A | ENSP00000325527.5:n.4582+39G>A | |
ENST00000537463.6:c.*345+39G>A | ENSP00000440294.2:n.*345+39G>A | |
NM_000138.4:c.4582+39G>A , LRG_778t1:c.4582+39G>A | NP_000129.3:n.4582+39G>A | |
NM_000138.5:c.4582+39G>A MANE Select | NP_000129.3:n.4582+39G>A |