HGVS | Genome Assembly |
---|---|
NC_000019.10:g.17818096G>C , CM000681.2:g.17818096G>C | GRCh38 |
NC_000019.9:g.17928905G>C , CM000681.1:g.17928905G>C | GRCh37 |
NC_000019.8:g.17789905G>C | NCBI36 |
NG_012092.1:g.8416C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317306.8:c.191-1037C>G MANE Select | ENSP00000321724.6:n.191-1037C>G | |
ENST00000317306.7:c.191-1037C>G | ENSP00000321724.6:n.191-1037C>G | |
ENST00000379695.5:c.286-1037C>G | ENSP00000369017.4:n.286-1037C>G | |
ENST00000598577.1:c.190-1015C>G | ||
NM_001265587.1:c.286-1037C>G | NP_001252516.1:n.286-1037C>G | |
NM_005543.3:c.191-1037C>G | NP_005534.2:n.191-1037C>G | |
NM_001265587.2:c.286-1037C>G | NP_001252516.1:n.286-1037C>G | |
NM_005543.4:c.191-1037C>G MANE Select | NP_005534.2:n.191-1037C>G |