HGVS | Genome Assembly |
---|---|
NC_000001.11:g.172665713T>G , CM000663.2:g.172665713T>G | GRCh38 |
NC_000001.10:g.172634853T>G , CM000663.1:g.172634853T>G | GRCh37 |
NC_000001.9:g.170901476T>G | NCBI36 |
NG_007269.1:g.11669T>G , LRG_58:g.11669T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367721.3:c.543T>G MANE Select | ENSP00000356694.2:p.Leu181= | |
ENST00000340030.4:c.*113T>G | ENSP00000344739.3:n.*113T>G | |
ENST00000367721.2:c.543T>G | ENSP00000356694.2:p.Leu181= | |
NM_000639.2:c.543T>G | NP_000630.1:p.Leu181= | |
NM_001302746.1:c.*113T>G | NP_001289675.1:n.*113T>G | |
NM_000639.3:c.543T>G MANE Select | NP_000630.1:p.Leu181= | |
NM_001302746.2:c.*113T>G | NP_001289675.1:n.*113T>G |