HGVS | Genome Assembly |
---|---|
NC_000006.12:g.41276002C>T , CM000668.2:g.41276002C>T | GRCh38 |
NC_000006.11:g.41243740C>T , CM000668.1:g.41243740C>T | GRCh37 |
NC_000006.10:g.41351718C>T | NCBI36 |
NG_029525.1:g.15718G>A | |
NG_029525.2:g.15718G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000244709.9:c.*123G>A MANE Select | ENSP00000244709.3:n.*123G>A | |
ENST00000244709.8:c.*123G>A | ENSP00000244709.3:n.*123G>A | |
ENST00000334475.10:c.*182G>A | ENSP00000334284.5:n.*182G>A | |
ENST00000589614.5:c.599+4959G>A | ENSP00000465688.1:n.599+4959G>A | |
ENST00000589695.1:n.503G>A | ||
NM_001242590.1:c.*182G>A | NP_001229519.1:n.*182G>A | |
NM_018643.3:c.*123G>A | NP_061113.1:n.*123G>A | |
XM_006715117.2:c.406+6393G>A | XP_006715180.1:n.406+6393G>A | |
XM_011514696.1:c.599+4959G>A | XP_011512998.1:n.599+4959G>A | |
NM_001242590.2:c.*182G>A | NP_001229519.1:n.*182G>A | |
NM_018643.4:c.*123G>A | NP_061113.1:n.*123G>A | |
NR_136332.1:n.918G>A | ||
XM_006715117.3:c.406+6393G>A | XP_006715180.1:n.406+6393G>A | |
XM_011514696.2:c.599+4959G>A | XP_011512998.1:n.599+4959G>A | |
XM_017010956.2:c.*123G>A | XP_016866445.1:n.*123G>A | |
XM_017010957.1:c.*182G>A | XP_016866446.1:n.*182G>A | |
NM_018643.5:c.*123G>A MANE Select | NP_061113.1:n.*123G>A | |
NM_001242590.3:c.*182G>A | NP_001229519.1:n.*182G>A | |
NR_136332.2:n.855G>A |