HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101421816G>T , CM000671.2:g.101421816G>T | GRCh38 |
NC_000009.11:g.104184098G>T , CM000671.1:g.104184098G>T | GRCh37 |
NC_000009.10:g.103223919G>T | NCBI36 |
NG_012387.1:g.18965C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647789.2:c.1088C>A MANE Select | ENSP00000497767.1:p.Thr363Asn | |
ENST00000648064.1:c.1088C>A | ENSP00000497990.1:p.Thr363Asn | |
ENST00000648758.1:c.1088C>A | ENSP00000497731.1:p.Thr363Asn | |
ENST00000374855.8:c.1088C>A | ENSP00000363988.4:p.Thr363Asn | |
ENST00000616752.1:c.*100C>A | ENSP00000481363.1:n.*100C>A | |
NM_000035.3:c.1088C>A | NP_000026.2:p.Thr363Asn | |
NM_000035.4:c.1088C>A MANE Select | NP_000026.2:p.Thr363Asn |