HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6018595G>T , CM000674.2:g.6018595G>T | GRCh38 |
NC_000012.11:g.6127761G>T , CM000674.1:g.6127761G>T | GRCh37 |
NC_000012.10:g.5998022G>T | NCBI36 |
NG_009072.1:g.111076C>A | |
NG_009072.2:g.111076C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.4823C>A MANE Select | ENSP00000261405.5:p.Thr1608Asn | |
ENST00000261405.9:c.4823C>A | ENSP00000261405.5:p.Thr1608Asn | |
ENST00000538635.5:n.421-24661C>A | ||
NM_000552.3:c.4823C>A | NP_000543.2:p.Thr1608Asn | |
NM_000552.4:c.4823C>A | NP_000543.2:p.Thr1608Asn | |
NM_000552.5:c.4823C>A MANE Select | NP_000543.3:p.Thr1608Asn |