HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19954126A>C , CM000670.2:g.19954126A>C | GRCh38 |
NC_000008.10:g.19811637A>C , CM000670.1:g.19811637A>C | GRCh37 |
NC_000008.9:g.19855917A>C | NCBI36 |
NG_008855.1:g.20056A>C | |
NG_008855.2:g.57410A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.548A>C MANE Select | ENSP00000497642.1:p.Asp183Ala | |
ENST00000311322.8:c.548A>C | ENSP00000309757.6:p.Asp183Ala | |
ENST00000520959.5:c.320A>C | ENSP00000428496.1:p.Asp107Ala | |
NM_000237.2:c.548A>C | NP_000228.1:p.Asp183Ala | |
NM_000237.3:c.548A>C MANE Select | NP_000228.1:p.Asp183Ala |