HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124748048T>C , CM000673.2:g.124748048T>C | GRCh38 |
NC_000011.9:g.124617944T>C , CM000673.1:g.124617944T>C | GRCh37 |
NC_000011.8:g.124123154T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000326621.10:c.851+342A>G MANE Select | ENSP00000318684.5:n.851+342A>G | |
ENST00000326621.9:c.851+342A>G | ENSP00000318684.5:n.851+342A>G | |
NM_014312.3:c.851+342A>G | NP_055127.2:n.851+342A>G | |
XM_011542727.1:c.1211+342A>G | XP_011541029.1:n.1211+342A>G | |
XM_011542728.1:c.845+342A>G | XP_011541030.1:n.845+342A>G | |
XR_428973.2:n.1642+342A>G | ||
NM_014312.4:c.851+342A>G | NP_055127.2:n.851+342A>G | |
NM_014312.5:c.851+342A>G MANE Select | NP_055127.2:n.851+342A>G |