HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37805032C>A , CM000685.2:g.37805032C>A | GRCh38 |
NC_000023.10:g.37664285C>A , CM000685.1:g.37664285C>A | GRCh37 |
NC_000023.9:g.37549229C>A | NCBI36 |
NG_009065.1:g.30016C>A , LRG_53:g.30016C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696170.1:c.*687C>A | ENSP00000512461.1:n.*687C>A | |
ENST00000696171.1:c.1082C>A | ENSP00000512462.1:p.Thr361Asn | |
ENST00000378588.5:c.1178C>A MANE Select | ENSP00000367851.4:p.Thr393Asn | |
ENST00000378588.4:c.1178C>A | ENSP00000367851.4:p.Thr393Asn | |
ENST00000465127.1:c.171+379032C>A | ENSP00000417050.1:n.171+379032C>A | |
NM_000397.3:c.1178C>A , LRG_53t1:c.1178C>A | NP_000388.2:p.Thr393Asn | |
XM_011543890.1:c.872C>A | XP_011542192.1:p.Thr291Asn | |
NM_000397.4:c.1178C>A MANE Select | NP_000388.2:p.Thr393Asn |