HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48474413G>T , CM000677.2:g.48474413G>T | GRCh38 |
NC_000015.9:g.48766610G>T , CM000677.1:g.48766610G>T | GRCh37 |
NC_000015.8:g.46553902G>T | NCBI36 |
NG_008805.2:g.176376C>A , LRG_778:g.176376C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4088-36C>A | ENSP00000453958.2:n.4088-36C>A | |
ENST00000674301.2:c.4088-36C>A | ENSP00000501333.2:n.4088-36C>A | |
ENST00000684448.1:n.2762-36C>A | ||
ENST00000316623.10:c.4088-36C>A MANE Select | ENSP00000325527.5:n.4088-36C>A | |
ENST00000316623.9:c.4088-36C>A | ENSP00000325527.5:n.4088-36C>A | |
ENST00000537463.6:c.760-36C>A | ENSP00000440294.2:n.760-36C>A | |
NM_000138.4:c.4088-36C>A , LRG_778t1:c.4088-36C>A | NP_000129.3:n.4088-36C>A | |
NM_000138.5:c.4088-36C>A MANE Select | NP_000129.3:n.4088-36C>A |