HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50905411T>G , CM000676.2:g.50905411T>G | GRCh38 |
NC_000014.8:g.51372129T>G , CM000676.1:g.51372129T>G | GRCh37 |
NC_000014.7:g.50441879T>G | NCBI36 |
NG_012796.1:g.44120A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216392.8:c.2525A>C MANE Select | ENSP00000216392.7:p.Asn842Thr | |
ENST00000216392.7:c.2525A>C | ENSP00000216392.7:p.Asn842Thr | |
ENST00000532462.5:c.2379+2860A>C | ENSP00000431657.1:n.2379+2860A>C | |
ENST00000544180.6:c.2423A>C | ENSP00000443787.1:p.Asn808Thr | |
NM_001163940.1:c.2423A>C | NP_001157412.1:p.Asn808Thr | |
NM_002863.4:c.2525A>C | NP_002854.3:p.Asn842Thr | |
NM_002863.5:c.2525A>C MANE Select | NP_002854.3:p.Asn842Thr | |
NM_001163940.2:c.2423A>C | NP_001157412.1:p.Asn808Thr |