HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169129061T>C , CM000664.2:g.169129061T>C | GRCh38 |
NC_000002.11:g.169985571T>C , CM000664.1:g.169985571T>C | GRCh37 |
NC_000002.10:g.169693817T>C | NCBI36 |
NG_012634.1:g.238552A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649046.1:c.13752A>G MANE Select | ENSP00000496870.1:p.Lys4584= | |
ENST00000649153.1:c.4561A>G | ||
ENST00000650252.1:c.2743A>G | ENSP00000496887.1:n.2743A>G | |
ENST00000263816.7:c.13752A>G | ENSP00000263816.3:p.Lys4584= | |
NM_004525.2:c.13752A>G | NP_004516.2:p.Lys4584= | |
XM_011511183.1:c.13623A>G | XP_011509485.1:p.Lys4541= | |
XM_011511184.1:c.11463A>G | XP_011509486.1:p.Lys3821= | |
NM_004525.3:c.13752A>G MANE Select | NP_004516.2:p.Lys4584= | |
XM_011511183.3:c.13623A>G | XP_011509485.1:p.Lys4541= | |
XM_011511184.2:c.11463A>G | XP_011509486.1:p.Lys3821= |