HGVS | Genome Assembly |
---|---|
NC_000005.10:g.93585398C>T , CM000667.2:g.93585398C>T | GRCh38 |
NC_000005.9:g.92921104C>T , CM000667.1:g.92921104C>T | GRCh37 |
NC_000005.8:g.92946860C>T | NCBI36 |
NG_034119.1:g.7062C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000615873.2:c.300C>T | ENSP00000481517.1:p.Asn100= | |
ENST00000327111.8:c.375C>T MANE Select | ENSP00000325819.3:p.Asn125= | |
ENST00000647447.1:c.222C>T | ENSP00000495740.1:p.Asn74= | |
ENST00000327111.7:c.375C>T | ENSP00000325819.3:p.Asn125= | |
ENST00000615873.1:c.300C>T | ENSP00000481517.1:p.Asn100= | |
NM_005654.5:c.375C>T | NP_005645.1:p.Asn125= | |
NM_005654.6:c.375C>T MANE Select | NP_005645.1:p.Asn125= |