HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951840T>C , CM000670.2:g.19951840T>C | GRCh38 |
NC_000008.10:g.19809351T>C , CM000670.1:g.19809351T>C | GRCh37 |
NC_000008.9:g.19853631T>C | NCBI36 |
NG_008855.1:g.17770T>C | |
NG_008855.2:g.55124T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.321T>C MANE Select | ENSP00000497642.1:p.Asn107= | |
ENST00000311322.8:c.321T>C | ENSP00000309757.6:p.Asn107= | |
ENST00000520959.5:c.93T>C | ENSP00000428496.1:p.Asn31= | |
ENST00000524029.5:c.321T>C | ENSP00000428237.1:p.Asn107= | |
NM_000237.2:c.321T>C | NP_000228.1:p.Asn107= | |
NM_000237.3:c.321T>C MANE Select | NP_000228.1:p.Asn107= |