HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17023930C>G , CM000663.2:g.17023930C>G | GRCh38 |
NC_000001.10:g.17350425C>G , CM000663.1:g.17350425C>G | GRCh37 |
NC_000001.9:g.17223012C>G | NCBI36 |
NG_012340.1:g.35241G>C , LRG_316:g.35241G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.471+43G>C | ENSP00000481376.2:n.471+43G>C | |
ENST00000491274.6:c.600+43G>C | ENSP00000480482.2:n.600+43G>C | |
ENST00000375499.8:c.642+43G>C MANE Select | ENSP00000364649.3:n.642+43G>C | |
ENST00000375499.7:c.642+43G>C | ENSP00000364649.3:n.642+43G>C | |
ENST00000485515.5:n.576+43G>C | ||
NM_003000.2:c.642+43G>C , LRG_316t1:c.642+43G>C | NP_002991.2:n.642+43G>C | |
NM_003000.3:c.642+43G>C MANE Select | NP_002991.2:n.642+43G>C |