HGVS | Genome Assembly |
---|---|
NC_000001.11:g.172665683T>G , CM000663.2:g.172665683T>G | GRCh38 |
NC_000001.10:g.172634823T>G , CM000663.1:g.172634823T>G | GRCh37 |
NC_000001.9:g.170901446T>G | NCBI36 |
NG_007269.1:g.11639T>G , LRG_58:g.11639T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367721.3:c.513T>G MANE Select | ENSP00000356694.2:p.Leu171= | |
ENST00000340030.4:c.*83T>G | ENSP00000344739.3:n.*83T>G | |
ENST00000367721.2:c.513T>G | ENSP00000356694.2:p.Leu171= | |
NM_000639.2:c.513T>G | NP_000630.1:p.Leu171= | |
NM_001302746.1:c.*83T>G | NP_001289675.1:n.*83T>G | |
NM_000639.3:c.513T>G MANE Select | NP_000630.1:p.Leu171= | |
NM_001302746.2:c.*83T>G | NP_001289675.1:n.*83T>G |