HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25013605C>T , CM000685.2:g.25013605C>T | GRCh38 |
NC_000023.10:g.25031722C>T , CM000685.1:g.25031722C>T | GRCh37 |
NC_000023.9:g.24941643C>T | NCBI36 |
NG_008281.1:g.7344G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379044.5:c.390G>A MANE Select | ENSP00000368332.4:p.Pro130= | |
ENST00000379044.4:c.390G>A | ENSP00000368332.4:p.Pro130= | |
NM_139058.2:c.390G>A | NP_620689.1:p.Pro130= | |
NM_139058.3:c.390G>A MANE Select | NP_620689.1:p.Pro130= |