HGVS | Genome Assembly |
---|---|
NC_000005.10:g.96429143T>C , CM000667.2:g.96429143T>C | GRCh38 |
NC_000005.9:g.95764847T>C , CM000667.1:g.95764847T>C | GRCh37 |
NC_000005.8:g.95790603T>C | NCBI36 |
NG_021161.1:g.9139A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311106.8:c.285+70A>G MANE Select | ENSP00000308024.2:n.285+70A>G | |
ENST00000311106.7:c.285+70A>G | ENSP00000308024.2:n.285+70A>G | |
ENST00000508626.5:c.144+70A>G | ENSP00000421600.1:n.144+70A>G | |
ENST00000509190.1:c.285+70A>G | ENSP00000427294.1:n.285+70A>G | |
NM_000439.4:c.285+70A>G | NP_000430.3:n.285+70A>G | |
NM_001177875.1:c.144+70A>G | NP_001171346.1:n.144+70A>G | |
NR_130776.1:n.354+49491T>C | ||
NM_000439.5:c.285+70A>G MANE Select | NP_000430.3:n.285+70A>G | |
NM_001177875.2:c.144+70A>G | NP_001171346.1:n.144+70A>G |