HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951776G>T , CM000670.2:g.19951776G>T | GRCh38 |
NC_000008.10:g.19809287G>T , CM000670.1:g.19809287G>T | GRCh37 |
NC_000008.9:g.19853567G>T | NCBI36 |
NG_008855.1:g.17706G>T | |
NG_008855.2:g.55060G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.257G>T MANE Select | ENSP00000497642.1:p.Gly86Val | |
ENST00000311322.8:c.257G>T | ENSP00000309757.6:p.Gly86Val | |
ENST00000520959.5:c.29G>T | ENSP00000428496.1:p.Gly10Val | |
ENST00000521994.1:n.514G>T | ||
ENST00000522701.5:c.257G>T | ENSP00000428557.1:p.Gly86Val | |
ENST00000524029.5:c.257G>T | ENSP00000428237.1:p.Gly86Val | |
NM_000237.2:c.257G>T | NP_000228.1:p.Gly86Val | |
NM_000237.3:c.257G>T MANE Select | NP_000228.1:p.Gly86Val |