HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112831240A>C , CM000664.2:g.112831240A>C | GRCh38 |
NC_000002.11:g.113588817A>C , CM000664.1:g.113588817A>C | GRCh37 |
NC_000002.10:g.113305288A>C | NCBI36 |
NG_008851.1:g.10540T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263341.7:c.597+52T>G MANE Select | ENSP00000263341.2:n.597+52T>G | |
ENST00000263341.6:c.597+52T>G | ENSP00000263341.2:n.597+52T>G | |
ENST00000487639.1:n.550T>G | ||
ENST00000491056.5:n.1404+52T>G | ||
NM_000576.2:c.597+52T>G | NP_000567.1:n.597+52T>G | |
XM_006712496.1:c.363+52T>G | XP_006712559.1:n.363+52T>G | |
XM_017003988.2:c.504+52T>G | XP_016859477.1:n.504+52T>G | |
NM_000576.3:c.597+52T>G MANE Select | NP_000567.1:n.597+52T>G |