HGVS | Genome Assembly |
---|---|
NC_000012.12:g.10435982T>C , CM000674.2:g.10435982T>C | GRCh38 |
NC_000012.11:g.10588581T>C , CM000674.1:g.10588581T>C | GRCh37 |
NC_000012.10:g.10479848T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381902.7:c.5A>G MANE Select | ENSP00000371327.2:p.Asn2Ser | |
ENST00000381901.5:c.5A>G | ENSP00000371326.1:p.Asn2Ser | |
ENST00000381902.6:c.5A>G | ENSP00000371327.2:p.Asn2Ser | |
ENST00000536833.6:c.11-572A>G | ENSP00000444754.1:n.11-572A>G | |
ENST00000539033.1:c.5A>G | ENSP00000437563.1:p.Asn2Ser | |
NM_002260.3:c.5A>G | NP_002251.2:p.Asn2Ser | |
NM_002260.4:c.5A>G MANE Select | NP_002251.2:p.Asn2Ser |