HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80280369A>G , CM000672.2:g.80280369A>G | GRCh38 |
NC_000010.10:g.82040125A>G , CM000672.1:g.82040125A>G | GRCh37 |
NC_000010.9:g.82030105A>G | NCBI36 |
NG_008083.1:g.14310T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372213.8:c.406-53T>C MANE Select | ENSP00000361287.3:n.406-53T>C | |
ENST00000372213.7:c.406-53T>C | ENSP00000361287.3:n.406-53T>C | |
ENST00000455001.1:c.217-53T>C | ENSP00000414961.1:n.217-53T>C | |
NM_000429.2:c.406-53T>C | NP_000420.1:n.406-53T>C | |
XM_005269842.3:c.406-53T>C | XP_005269899.1:n.406-53T>C | |
XM_005269843.3:c.283-53T>C | XP_005269900.1:n.283-53T>C | |
NM_000429.3:c.406-53T>C MANE Select | NP_000420.1:n.406-53T>C |