HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240875169G>T , CM000664.2:g.240875169G>T | GRCh38 |
NC_000002.11:g.241814586G>T , CM000664.1:g.241814586G>T | GRCh37 |
NC_000002.10:g.241463259G>T | NCBI36 |
NG_008005.1:g.11425G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.741G>T MANE Select | ENSP00000302620.3:p.Leu247= | |
ENST00000307503.3:c.741G>T | ENSP00000302620.3:p.Leu247= | |
ENST00000476698.1:n.393G>T | ||
NM_000030.2:c.741G>T | NP_000021.1:p.Leu247= | |
NM_000030.3:c.741G>T MANE Select | NP_000021.1:p.Leu247= |