HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129813732G= , CM000671.2:g.129813732G= | GRCh38 |
NC_000009.11:g.132576011G= , CM000671.1:g.132576011G= | GRCh37 |
NC_000009.10:g.131615832G= | NCBI36 |
NG_008049.1:g.15431C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.*240C= MANE Select | ENSP00000345719.4:n.*240C= | |
ENST00000651202.1:c.*507C= | ENSP00000498222.1:n.*507C= | |
ENST00000351698.4:c.*240C= | ENSP00000345719.4:n.*240C= | |
ENST00000474192.1:n.823C= | ||
NM_000113.2:c.*240C= | NP_000104.1:n.*240C= | |
XR_929731.3:n.1434C= | ||
NM_000113.3:c.*240C= MANE Select | NP_000104.1:n.*240C= |