HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35805886G>T , CM000668.2:g.35805886G>T | GRCh38 |
NC_000006.11:g.35773663G>T , CM000668.1:g.35773663G>T | GRCh37 |
NC_000006.10:g.35881641G>T | NCBI36 |
NG_012184.1:g.5593G>T | |
NG_012184.2:g.5593G>T | |
NG_012184.3:g.13681G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360215.3:c.216G>T MANE Select | ENSP00000353346.1:p.Val72= | |
ENST00000651132.1:c.216G>T | ENSP00000498322.1:p.Val72= | |
ENST00000651676.1:c.216G>T | ENSP00000498699.1:p.Val72= | |
ENST00000651994.1:c.216G>T | ENSP00000498310.1:p.Val72= | |
ENST00000652718.1:c.48G>T | ENSP00000498866.1:p.Val16= | |
ENST00000360215.2:c.216G>T | ENSP00000353346.1:p.Val72= | |
NM_182548.3:c.216G>T | NP_872354.1:p.Val72= | |
XM_011514403.1:c.216G>T | XP_011512705.1:p.Val72= | |
NM_182548.4:c.216G>T MANE Select | NP_872354.1:p.Val72= |