HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225883T>G , CM000668.2:g.3225883T>G | GRCh38 |
NC_000006.11:g.3226117T>G , CM000668.1:g.3226117T>G | GRCh37 |
NC_000006.10:g.3171116T>G | NCBI36 |
NG_016715.1:g.6852A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259818.8:c.278-72A>C MANE Select | ENSP00000259818.6:n.278-72A>C | |
ENST00000680070.1:n.1208-72A>C | ||
ENST00000681707.1:n.1105-72A>C | ||
ENST00000681757.1:n.583-72A>C | ||
ENST00000259818.7:c.278-72A>C | ENSP00000259818.6:n.278-72A>C | |
ENST00000473006.1:n.395-72A>C | ||
NM_178012.4:c.278-72A>C | NP_821080.1:n.278-72A>C | |
XM_011514571.1:c.62-72A>C | XP_011512873.1:n.62-72A>C | |
NM_178012.5:c.278-72A>C MANE Select | NP_821080.1:n.278-72A>C |