HGVS | Genome Assembly |
---|---|
NC_000003.12:g.39265767T>C , CM000665.2:g.39265767T>C | GRCh38 |
NC_000003.11:g.39307258T>C , CM000665.1:g.39307258T>C | GRCh37 |
NC_000003.10:g.39282262T>C | NCBI36 |
NG_016362.1:g.20969A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399220.3:c.743A>G MANE Select | ENSP00000382166.3:p.Asn248Ser | |
ENST00000358309.3:c.839A>G | ENSP00000351059.3:p.Asn280Ser | |
ENST00000399220.2:c.743A>G | ENSP00000382166.2:p.Asn248Ser | |
ENST00000541347.5:c.743A>G | ENSP00000439140.1:p.Asn248Ser | |
ENST00000542107.5:c.743A>G | ENSP00000444928.1:p.Asn248Ser | |
NM_001171171.1:c.743A>G | NP_001164642.1:p.Asn248Ser | |
NM_001171172.1:c.743A>G | NP_001164643.1:p.Asn248Ser | |
NM_001171174.1:c.839A>G | NP_001164645.1:p.Asn280Ser | |
NM_001337.3:c.743A>G | NP_001328.1:p.Asn248Ser | |
NM_001337.4:c.743A>G MANE Select | NP_001328.1:p.Asn248Ser | |
NM_001171171.2:c.743A>G | NP_001164642.1:p.Asn248Ser | |
NM_001171172.2:c.743A>G | NP_001164643.1:p.Asn248Ser |