HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30993303G>C , CM000678.2:g.30993303G>C | GRCh38 |
NC_000016.9:g.31004624G>C , CM000678.1:g.31004624G>C | GRCh37 |
NC_000016.8:g.30912125G>C | NCBI36 |
NG_041829.1:g.22206C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215095.11:c.675+44C>G MANE Select | ENSP00000215095.5:n.675+44C>G | |
ENST00000565419.2:c.675+44C>G | ENSP00000455899.1:n.675+44C>G | |
ENST00000215095.9:c.675+44C>G | ENSP00000215095.5:n.675+44C>G | |
ENST00000565419.1:c.675+44C>G | ENSP00000455899.1:n.675+44C>G | |
ENST00000569638.5:c.423+44C>G | ENSP00000457067.1:n.423+44C>G | |
NM_052874.4:c.675+44C>G | NP_443106.1:n.675+44C>G | |
XM_017022893.1:c.657+44C>G | XP_016878382.1:n.657+44C>G | |
NM_052874.5:c.675+44C>G MANE Select | NP_443106.1:n.675+44C>G |