HGVS | Genome Assembly |
---|---|
NC_000004.12:g.148081363A>G , CM000666.2:g.148081363A>G | GRCh38 |
NC_000004.11:g.149002514A>G , CM000666.1:g.149002514A>G | GRCh37 |
NC_000004.10:g.149221964A>G | NCBI36 |
NG_013350.1:g.366159T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358102.8:c.2936T>C MANE Select | ENSP00000350815.3:p.Leu979Pro | |
ENST00000342437.8:c.*319T>C | ENSP00000343907.4:n.*319T>C | |
ENST00000344721.8:c.2936T>C | ENSP00000341390.4:p.Leu979Pro | |
ENST00000358102.7:c.2936T>C | ENSP00000350815.3:p.Leu979Pro | |
ENST00000511528.1:c.2948T>C | ENSP00000421481.1:p.Leu983Pro | |
ENST00000512865.5:c.2585T>C | ENSP00000423510.1:p.Leu862Pro | |
ENST00000625323.2:c.2948T>C | ENSP00000486719.1:p.Leu983Pro | |
NM_000901.4:c.2936T>C | NP_000892.2:p.Leu979Pro | |
NM_001166104.1:c.2585T>C | NP_001159576.1:p.Leu862Pro | |
XM_011531975.1:c.2948T>C | XP_011530277.1:p.Leu983Pro | |
XM_011531976.1:c.2948T>C | XP_011530278.1:p.Leu983Pro | |
XM_011531977.1:c.2948T>C | XP_011530279.1:p.Leu983Pro | |
NM_001354819.1:c.2585T>C | NP_001341748.1:p.Leu862Pro | |
NR_148974.1:n.2803T>C | ||
NM_000901.5:c.2936T>C MANE Select | NP_000892.2:p.Leu979Pro | |
NM_001166104.2:c.2585T>C | NP_001159576.1:p.Leu862Pro | |
NR_148974.2:n.2697T>C |