HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160041721C>T , CM000663.2:g.160041721C>T | GRCh38 |
NC_000001.10:g.160011511C>T , CM000663.1:g.160011511C>T | GRCh37 |
NC_000001.9:g.158278135C>T | NCBI36 |
NG_016411.1:g.33451G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000509700.2:c.671+113G>A | ||
ENST00000636689.1:n.95-2373G>A | ||
ENST00000637644.1:c.487+325G>A | ENSP00000490282.1:n.487+325G>A | |
ENST00000638728.1:c.812G>A | ENSP00000492619.1:p.Arg271His | |
ENST00000638840.1:c.534G>A | ||
ENST00000638868.1:c.812G>A | ENSP00000491250.1:p.Arg271His | |
ENST00000639408.1:c.487+325G>A | ENSP00000491635.1:n.487+325G>A | |
ENST00000640017.1:c.669+113G>A | ENSP00000491337.1:n.669+113G>A | |
ENST00000640914.1:c.124+113G>A | ||
ENST00000644903.1:c.812G>A MANE Select | ENSP00000495557.1:p.Arg271His | |
ENST00000368089.3:c.812G>A | ENSP00000357068.3:p.Arg271His | |
ENST00000509700.1:n.462+113G>A | ||
NM_002241.4:c.812G>A | NP_002232.2:p.Arg271His | |
NM_002241.5:c.812G>A MANE Select | NP_002232.2:p.Arg271His |