HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96160320T>G , CM000670.2:g.96160320T>G | GRCh38 |
NC_000008.10:g.97172548T>G , CM000670.1:g.97172548T>G | GRCh37 |
NC_000008.9:g.97241724T>G | NCBI36 |
NG_008981.1:g.5473A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287020.7:c.373A>C MANE Select | ENSP00000287020.4:p.Asn125His | |
ENST00000287020.6:c.373A>C | ENSP00000287020.4:p.Asn125His | |
ENST00000620978.1:c.373A>C | ENSP00000480170.1:p.Asn125His | |
ENST00000621429.1:c.373A>C | ENSP00000483711.1:p.Asn125His | |
NM_001001557.2:c.373A>C | NP_001001557.1:p.Asn125His | |
NM_001001557.3:c.373A>C | NP_001001557.1:p.Asn125His | |
NM_001001557.4:c.373A>C MANE Select | NP_001001557.1:p.Asn125His |