HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47333543C>G , CM000673.2:g.47333543C>G | GRCh38 |
NC_000011.9:g.47355094C>G , CM000673.1:g.47355094C>G | GRCh37 |
NC_000011.8:g.47311670C>G | NCBI36 |
NG_007667.1:g.24160G>C , LRG_386:g.24160G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.3190+14G>C MANE Select | ENSP00000442795.1:n.3190+14G>C | |
ENST00000256993.8:c.3190+14G>C | ENSP00000256993.5:n.3190+14G>C | |
ENST00000399249.6:c.3190+14G>C | ENSP00000382193.2:n.3190+14G>C | |
ENST00000545968.5:c.3190+14G>C | ENSP00000442795.1:n.3190+14G>C | |
NM_000256.3:c.3190+14G>C , LRG_386t1:c.3190+14G>C MANE Select | NP_000247.2:n.3190+14G>C | |
XM_011520117.1:c.3172+14G>C | XP_011518419.1:n.3172+14G>C | |
XM_011520118.1:c.3109+14G>C | XP_011518420.1:n.3109+14G>C |