HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129814126C>T , CM000671.2:g.129814126C>T | GRCh38 |
NC_000009.11:g.132576405C>T , CM000671.1:g.132576405C>T | GRCh37 |
NC_000009.10:g.131616226C>T | NCBI36 |
NG_008049.1:g.15037G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.845G>A MANE Select | ENSP00000345719.4:p.Arg282Gln | |
ENST00000651202.1:c.*113G>A | ENSP00000498222.1:n.*113G>A | |
ENST00000351698.4:c.845G>A | ENSP00000345719.4:p.Arg282Gln | |
ENST00000474192.1:n.429G>A | ||
NM_000113.2:c.845G>A | NP_000104.1:p.Arg282Gln | |
XR_929731.1:n.1172G>A | ||
XR_929731.3:n.1040G>A | ||
NM_000113.3:c.845G>A MANE Select | NP_000104.1:p.Arg282Gln |