HGVS | Genome Assembly |
---|---|
NC_000017.11:g.27800492C>G , CM000679.2:g.27800492C>G | GRCh38 |
NC_000017.10:g.26127518C>G , CM000679.1:g.26127518C>G | GRCh37 |
NC_000017.9:g.23151645C>G | NCBI36 |
NG_011470.1:g.5038G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000313735.11:c.-227G>C MANE Select | ENSP00000327251.6:n.-227G>C | |
ENST00000313735.10:c.-227G>C | ENSP00000327251.6:n.-227G>C | |
ENST00000582441.1:c.439-1610G>C | ENSP00000462879.1:n.439-1610G>C | |
NM_000625.4:c.-227G>C MANE Select | NP_000616.3:n.-227G>C | |
XM_011524859.1:c.-73-1610G>C | XP_011523161.1:n.-73-1610G>C | |
XM_011524861.1:c.-227G>C | XP_011523163.1:n.-227G>C |