HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215798961T>G , CM000663.2:g.215798961T>G | GRCh38 |
NC_000001.10:g.215972303T>G , CM000663.1:g.215972303T>G | GRCh37 |
NC_000001.9:g.214038926T>G | NCBI36 |
NG_009497.1:g.629436A>C | |
NG_009497.2:g.629488A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.9904A>C MANE Select | ENSP00000305941.3:p.Asn3302His | |
ENST00000674083.1:c.9904A>C | ENSP00000501296.1:p.Asn3302His | |
ENST00000307340.7:c.9904A>C | ENSP00000305941.3:p.Asn3302His | |
NM_206933.2:c.9904A>C | NP_996816.2:p.Asn3302His | |
NM_206933.3:c.9904A>C | NP_996816.2:p.Asn3302His | |
NM_206933.4:c.9904A>C MANE Select | NP_996816.3:p.Asn3302His |