HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47834561T>A , CM000681.2:g.47834561T>A | GRCh38 |
NC_000019.9:g.48337818T>A , CM000681.1:g.48337818T>A | GRCh37 |
NC_000019.8:g.53029630T>A | NCBI36 |
NG_008605.1:g.17720T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000221996.12:c.100+18T>A MANE Select | ENSP00000221996.5:n.100+18T>A | |
ENST00000221996.11:c.100+18T>A | ENSP00000221996.5:n.100+18T>A | |
ENST00000539067.5:c.100+18T>A | ENSP00000445565.1:n.100+18T>A | |
ENST00000556527.1:n.78-1682T>A | ||
ENST00000566686.5:c.100+18T>A | ENSP00000457808.2:n.100+18T>A | |
ENST00000613299.1:c.100+18T>A | ENSP00000478106.1:n.100+18T>A | |
NM_000554.4:c.100+18T>A | NP_000545.1:n.100+18T>A | |
NM_000554.5:c.100+18T>A | NP_000545.1:n.100+18T>A | |
NM_000554.6:c.100+18T>A MANE Select | NP_000545.1:n.100+18T>A |