HGVS | Genome Assembly |
---|---|
NC_000001.11:g.147773287T>G , CM000663.2:g.147773287T>G | GRCh38 |
NC_000001.10:g.147245391T>G , CM000663.1:g.147245391T>G | GRCh37 |
NC_000001.9:g.145712015T>G | NCBI36 |
NG_009369.2:g.5088A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000430508.1:c.-69A>C | ENSP00000407645.1:n.-69A>C | |
ENST00000621517.1:c.-69A>C | ENSP00000484552.1:n.-69A>C | |
NM_005266.6:c.-69A>C | NP_005257.2:n.-69A>C | |
XM_005272951.3:c.-34+7380A>C | XP_005273008.1:n.-34+7380A>C | |
XM_011509415.1:c.-2214A>C | XP_011507717.1:n.-2214A>C | |
XR_922078.1:n.434-4274T>G | ||
XR_922079.1:n.434-4274T>G | ||
XM_005272951.4:c.-34+7380A>C | XP_005273008.1:n.-34+7380A>C | |
XM_017001044.1:c.-2055A>C | XP_016856533.1:n.-2055A>C | |
XR_922079.3:n.744-4274T>G | ||
NM_005266.7:c.-69A>C | NP_005257.2:n.-69A>C |