HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320455T>G , CM000667.2:g.159320455T>G | GRCh38 |
NC_000005.9:g.158747463T>G , CM000667.1:g.158747463T>G | GRCh37 |
NC_000005.8:g.158680041T>G | NCBI36 |
NG_009618.1:g.15019A>C , LRG_71:g.15019A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-83A>C | ENSP00000512849.1:n.-83A>C | |
ENST00000696751.1:c.*43A>C | ENSP00000512850.1:n.*43A>C | |
ENST00000231228.3:c.548A>C MANE Select | ENSP00000231228.2:p.Asp183Ala | |
ENST00000231228.2:c.548A>C | ENSP00000231228.2:p.Asp183Ala | |
NM_002187.2:c.548A>C , LRG_71t1:c.548A>C | NP_002178.2:p.Asp183Ala | |
XR_001742945.1:n.6T>G | ||
NM_002187.3:c.548A>C MANE Select | NP_002178.2:p.Asp183Ala |