HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951771A>T , CM000670.2:g.19951771A>T | GRCh38 |
NC_000008.10:g.19809282A>T , CM000670.1:g.19809282A>T | GRCh37 |
NC_000008.9:g.19853562A>T | NCBI36 |
NG_008855.1:g.17701A>T | |
NG_008855.2:g.55055A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.252A>T MANE Select | ENSP00000497642.1:p.Val84= | |
ENST00000311322.8:c.252A>T | ENSP00000309757.6:p.Val84= | |
ENST00000520959.5:c.24A>T | ENSP00000428496.1:p.Val8= | |
ENST00000521994.1:n.509A>T | ||
ENST00000522701.5:c.252A>T | ENSP00000428557.1:p.Val84= | |
ENST00000524029.5:c.252A>T | ENSP00000428237.1:p.Val84= | |
NM_000237.2:c.252A>T | NP_000228.1:p.Val84= | |
NM_000237.3:c.252A>T MANE Select | NP_000228.1:p.Val84= |