HGVS | Genome Assembly |
---|---|
NC_000019.10:g.17244016C>T , CM000681.2:g.17244016C>T | GRCh38 |
NC_000019.9:g.17354825C>T , CM000681.1:g.17354825C>T | GRCh37 |
NC_000019.8:g.17215825C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291442.4:c.278+927G>A MANE Select | ENSP00000291442.2:n.278+927G>A | |
ENST00000291442.3:c.278+927G>A | ENSP00000291442.2:n.278+927G>A | |
ENST00000594059.1:c.-82-3251G>A | ENSP00000473056.1:n.-82-3251G>A | |
ENST00000596878.1:c.-83+217G>A | ENSP00000471686.1:n.-83+217G>A | |
NM_005234.3:c.278+927G>A | NP_005225.2:n.278+927G>A | |
NM_005234.4:c.278+927G>A MANE Select | NP_005225.2:n.278+927G>A |