HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37728027G>C , CM000685.2:g.37728027G>C | GRCh38 |
NC_000023.10:g.37587280G>C , CM000685.1:g.37587280G>C | GRCh37 |
NC_000023.9:g.37472219G>C | NCBI36 |
NG_007473.1:g.47168G>C | |
NG_007473.3:g.47148G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378616.5:c.900G>C MANE Select | ENSP00000367879.3:p.Leu300= | |
ENST00000378616.3:c.900G>C | ENSP00000367879.3:p.Leu300= | |
ENST00000465127.1:c.171+302027G>C | ENSP00000417050.1:n.171+302027G>C | |
NM_021083.2:c.900G>C | NP_066569.1:p.Leu300= | |
NM_021083.4:c.900G>C MANE Select | NP_066569.1:p.Leu300= |