HGVS | Genome Assembly |
---|---|
NC_000017.11:g.58280365C>G , CM000679.2:g.58280365C>G | GRCh38 |
NC_000017.10:g.56357726C>G , CM000679.1:g.56357726C>G | GRCh37 |
NC_000017.9:g.53712725C>G | NCBI36 |
NG_009629.1:g.5571G>C , LRG_84:g.5571G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000225275.4:c.248+1G>C MANE Select | ENSP00000225275.3:n.248+1G>C | |
ENST00000225275.3:c.248+1G>C | ENSP00000225275.3:n.248+1G>C | |
ENST00000580005.1:n.178G>C | ||
NM_000250.1:c.248+1G>C , LRG_84t1:c.248+1G>C | NP_000241.1:n.248+1G>C | |
XM_011524821.1:c.434+1G>C | XP_011523123.1:n.434+1G>C | |
XM_011524822.1:c.-38+240G>C | XP_011523124.1:n.-38+240G>C | |
XM_011524823.1:c.434+1G>C | XP_011523125.1:n.434+1G>C | |
NM_000250.2:c.248+1G>C MANE Select | NP_000241.1:n.248+1G>C |