HGVS | Genome Assembly |
---|---|
NC_000014.9:g.49621881G>C , CM000676.2:g.49621881G>C | GRCh38 |
NC_000014.8:g.50088599G>C , CM000676.1:g.50088599G>C | GRCh37 |
NC_000014.7:g.49158349G>C | NCBI36 |
NG_008920.1:g.6111G>C | |
NG_033054.1:g.3751C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000305386.4:c.613G>C MANE Select | ENSP00000307423.2:p.Ala205Pro | |
ENST00000305386.3:c.613G>C | ENSP00000307423.2:p.Ala205Pro | |
NM_002408.3:c.613G>C | NP_002399.1:p.Ala205Pro | |
NM_002408.4:c.613G>C MANE Select | NP_002399.1:p.Ala205Pro |