HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124748061A>G , CM000673.2:g.124748061A>G | GRCh38 |
NC_000011.9:g.124617957A>G , CM000673.1:g.124617957A>G | GRCh37 |
NC_000011.8:g.124123167A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000326621.10:c.851+329T>C MANE Select | ENSP00000318684.5:n.851+329T>C | |
ENST00000326621.9:c.851+329T>C | ENSP00000318684.5:n.851+329T>C | |
NM_014312.3:c.851+329T>C | NP_055127.2:n.851+329T>C | |
XM_011542727.1:c.1211+329T>C | XP_011541029.1:n.1211+329T>C | |
XM_011542728.1:c.845+329T>C | XP_011541030.1:n.845+329T>C | |
XR_428973.2:n.1642+329T>C | ||
NM_014312.4:c.851+329T>C | NP_055127.2:n.851+329T>C | |
NM_014312.5:c.851+329T>C MANE Select | NP_055127.2:n.851+329T>C |