HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48468378T>C , CM000677.2:g.48468378T>C | GRCh38 |
NC_000015.9:g.48760575T>C , CM000677.1:g.48760575T>C | GRCh37 |
NC_000015.8:g.46547867T>C | NCBI36 |
NG_008805.2:g.182411A>G , LRG_778:g.182411A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4582+34A>G | ENSP00000453958.2:n.4582+34A>G | |
ENST00000674301.2:c.4582+34A>G | ENSP00000501333.2:n.4582+34A>G | |
ENST00000684448.1:n.3256+34A>G | ||
ENST00000316623.10:c.4582+34A>G MANE Select | ENSP00000325527.5:n.4582+34A>G | |
ENST00000316623.9:c.4582+34A>G | ENSP00000325527.5:n.4582+34A>G | |
ENST00000537463.6:c.*345+34A>G | ENSP00000440294.2:n.*345+34A>G | |
NM_000138.4:c.4582+34A>G , LRG_778t1:c.4582+34A>G | NP_000129.3:n.4582+34A>G | |
NM_000138.5:c.4582+34A>G MANE Select | NP_000129.3:n.4582+34A>G |