HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19387975G>C , CM000684.2:g.19387975G>C | GRCh38 |
NC_000022.10:g.19375498G>C , CM000684.1:g.19375498G>C | GRCh37 |
NC_000022.9:g.17755498G>C | NCBI36 |
NG_009231.1:g.48722C>G | |
NG_009231.2:g.48722C>G |
HGVS | Amino-acid Change |
---|---|
NM_003325.4:c.1008-159C>G (HIRA) MANE Select | NP_003316.3:n.1008-159C>G |
ENST00000263208.5:c.1008-159C>G (HIRA) MANE Select | ENSP00000263208.5:n.1008-159C>G |
NM_003325.3:c.1008-159C>G (HIRA) | NP_003316.3:n.1008-159C>G |
ENST00000340170.8:c.1008-159C>G (HIRA) | ENSP00000345350.4:n.1008-159C>G |
ENST00000509549.5:c.*884-159C>G (C22orf39) | ENSP00000424903.1:n.*884-159C>G |