HGVS | Genome Assembly |
---|---|
NC_000001.11:g.23796227C>T , CM000663.2:g.23796227C>T | GRCh38 |
NC_000001.10:g.24122717C>T , CM000663.1:g.24122717C>T | GRCh37 |
NC_000001.9:g.23995304C>T | NCBI36 |
NG_007068.1:g.9578G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617979.5:c.912G>A MANE Select | ENSP00000483375.1:p.Val304= | |
ENST00000374497.7:c.912G>A | ENSP00000363621.3:p.Val304= | |
ENST00000429356.5:c.642G>A | ENSP00000398585.1:p.Val214= | |
ENST00000456977.5:c.192G>A | ENSP00000397045.1:p.Val64= | |
ENST00000459934.5:n.1140G>A | ||
ENST00000469556.1:n.659G>A | ||
ENST00000481736.5:n.1316G>A | ||
ENST00000617979.4:c.912G>A | ENSP00000483375.1:p.Val304= | |
NM_000403.3:c.912G>A | NP_000394.2:p.Val304= | |
NM_001008216.1:c.912G>A | NP_001008217.1:p.Val304= | |
NM_001127621.1:c.912G>A | NP_001121093.1:p.Val304= | |
NM_001008216.2:c.912G>A MANE Select | NP_001008217.1:p.Val304= | |
NM_000403.4:c.912G>A | NP_000394.2:p.Val304= | |
NM_001127621.2:c.912G>A | NP_001121093.1:p.Val304= |