HGVS | Genome Assembly |
---|---|
NC_000014.9:g.49622016G>A , CM000676.2:g.49622016G>A | GRCh38 |
NC_000014.8:g.50088734G>A , CM000676.1:g.50088734G>A | GRCh37 |
NC_000014.7:g.49158484G>A | NCBI36 |
NG_008920.1:g.6246G>A | |
NG_033054.1:g.3616C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305386.4:c.748G>A MANE Select | ENSP00000307423.2:p.Asp250Asn | |
ENST00000305386.3:c.748G>A | ENSP00000307423.2:p.Asp250Asn | |
NM_002408.3:c.748G>A | NP_002399.1:p.Asp250Asn | |
NM_002408.4:c.748G>A MANE Select | NP_002399.1:p.Asp250Asn |