HGVS | Genome Assembly |
---|---|
NC_000006.12:g.30171922G>A , CM000668.2:g.30171922G>A | GRCh38 |
NC_000006.11:g.30139699G>A , CM000668.1:g.30139699G>A | GRCh37 |
NC_000006.10:g.30247678G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376694.9:c.971G>A MANE Select | ENSP00000365884.4:p.Ser324Asn | |
ENST00000376688.2:c.305-642G>A | ENSP00000365878.2:n.305-642G>A | |
ENST00000376694.8:c.971G>A | ENSP00000365884.4:p.Ser324Asn | |
ENST00000433744.1:c.458G>A | ||
ENST00000619857.4:c.764G>A | ENSP00000484001.1:p.Ser255Asn | |
NM_033229.2:c.971G>A | NP_150232.2:p.Ser324Asn | |
XM_011514987.1:c.656G>A | XP_011513289.1:p.Ser219Asn | |
XM_011514988.1:c.350G>A | XP_011513290.1:p.Ser117Asn | |
XM_011514988.2:c.350G>A | XP_011513290.1:p.Ser117Asn | |
NM_033229.3:c.971G>A MANE Select | NP_150232.2:p.Ser324Asn |