HGVS | Genome Assembly |
---|---|
NC_000001.11:g.147760632T>C , CM000663.2:g.147760632T>C | GRCh38 |
NG_009369.2:g.17743A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000430508.1:c.-33-1361A>G | ENSP00000407645.1:n.-33-1361A>G | |
ENST00000621517.1:c.-33-1361A>G | ENSP00000484552.1:n.-33-1361A>G | |
NM_005266.6:c.-33-1361A>G | NP_005257.2:n.-33-1361A>G | |
XM_005272951.3:c.-33-1361A>G | XP_005273008.1:n.-33-1361A>G | |
XM_011509415.1:c.-167A>G | XP_011507717.1:n.-167A>G | |
XR_922078.1:n.434-16929T>C | ||
XR_922079.1:n.434-16929T>C | ||
XM_005272951.4:c.-33-1361A>G | XP_005273008.1:n.-33-1361A>G | |
XM_017001044.1:c.-167A>G | XP_016856533.1:n.-167A>G | |
XR_922079.3:n.744-16929T>C | ||
NM_005266.7:c.-33-1361A>G | NP_005257.2:n.-33-1361A>G |