HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31524784G>A , CM000680.2:g.31524784G>A | GRCh38 |
NC_000018.9:g.29104747G>A , CM000680.1:g.29104747G>A | GRCh37 |
NC_000018.8:g.27358745G>A | NCBI36 |
NG_007072.3:g.31543G>A , LRG_397:g.31543G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682087.2:n.741G>A | ||
ENST00000683614.2:n.741G>A | ||
ENST00000682087.1:c.741G>A | ||
ENST00000683614.1:c.741G>A | ||
ENST00000261590.13:c.910G>A MANE Select | ENSP00000261590.8:p.Asp304Asn | |
ENST00000261590.12:c.910G>A | ENSP00000261590.8:p.Asp304Asn | |
NM_001943.3:c.910G>A , LRG_397t1:c.910G>A | NP_001934.2:p.Asp304Asn | |
NM_001943.4:c.910G>A | NP_001934.2:p.Asp304Asn | |
XM_024451095.1:c.376G>A | XP_024306863.1:p.Asp126Asn | |
NM_001943.5:c.910G>A MANE Select | NP_001934.2:p.Asp304Asn |