HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73418211G>C , CM000666.2:g.73418211G>C | GRCh38 |
NC_000004.11:g.74283928G>C , CM000666.1:g.74283928G>C | GRCh37 |
NC_000004.10:g.74502792G>C | NCBI36 |
NG_009291.1:g.18957G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295897.9:c.1552G>C MANE Select | ENSP00000295897.4:p.Asp518His | |
ENST00000295897.8:c.1552G>C | ENSP00000295897.4:p.Asp518His | |
ENST00000401494.7:c.1207G>C | ENSP00000384695.3:p.Asp403His | |
ENST00000415165.6:c.976G>C | ENSP00000401820.2:p.Asp326His | |
ENST00000476441.6:c.*831G>C | ENSP00000423727.1:n.*831G>C | |
ENST00000486939.1:n.206G>C | ||
ENST00000503124.5:c.1102G>C | ENSP00000421027.1:p.Asp368His | |
ENST00000505649.5:n.1099G>C | ||
ENST00000509063.5:c.1552G>C | ENSP00000422784.1:p.Asp518His | |
ENST00000511370.1:c.1085G>C | ||
ENST00000621085.4:c.913G>C | ENSP00000483421.1:p.Asp305His | |
ENST00000621628.4:c.913G>C | ENSP00000480485.1:p.Asp305His | |
NM_000477.5:c.1552G>C | NP_000468.1:p.Asp518His | |
NM_000477.6:c.1552G>C | NP_000468.1:p.Asp518His | |
NM_000477.7:c.1552G>C MANE Select | NP_000468.1:p.Asp518His |