Linked Data
ClinVar Variation Id:
448255
dbSNP Id:
rs575368466
ExAC:
2:166850721 C / T
gnomAD v2:
2-166850721-C-T
gnomAD v3:
2-165994211-C-T
gnomAD v4:
2-165994211-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165994211C>T , CM000664.2:g.165994211C>T | GRCh38 |
| NC_000002.11:g.166850721C>T , CM000664.1:g.166850721C>T | GRCh37 |
| NC_000002.10:g.166558967C>T | NCBI36 |
| NG_011906.1:g.84429G>A , LRG_8:g.84429G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689288.1:c.*2823G>A | ENSP00000509637.1:n.*2823G>A | |
| ENST00000303395.9:c.4787G>A | ENSP00000303540.4:p.Arg1596His | |
| ENST00000635750.1:c.4754G>A | ENSP00000490799.1:p.Arg1585His | |
| ENST00000635776.1:c.4754G>A | ENSP00000490692.1:p.Arg1585His | |
| ENST00000636194.1:c.*2280G>A | ENSP00000490288.1:n.*2280G>A | |
| ENST00000637038.1:c.1649G>A | ||
| ENST00000637988.1:c.4754G>A | ENSP00000490780.1:p.Arg1585His | |
| ENST00000640036.1:c.4754G>A | ENSP00000491573.1:p.Arg1585His | |
| ENST00000641575.1:c.4751G>A | ENSP00000492917.1:p.Arg1584His | |
| ENST00000641603.1:c.4505G>A | ENSP00000492945.1:p.Arg1502His | |
| ENST00000641996.1:c.*4341G>A | ENSP00000493054.1:n.*4341G>A | |
| ENST00000671940.1:c.*2730G>A | ENSP00000500336.1:n.*2730G>A | |
| ENST00000673490.1:n.7260G>A | ||
| ENST00000674923.1:c.4787G>A MANE Select | ENSP00000501589.1:p.Arg1596His | |
| ENST00000303395.8:c.4787G>A | ENSP00000303540.4:p.Arg1596His | |
| ENST00000375405.7:c.4754G>A | ENSP00000364554.3:p.Arg1585His | |
| ENST00000409050.1:c.4703G>A | ENSP00000386312.1:p.Arg1568His | |
| ENST00000423058.6:c.4787G>A | ENSP00000407030.2:p.Arg1596His | |
| ENST00000625916.1:n.516G>A | ||
| NM_001165963.1:c.4787G>A | NP_001159435.1:p.Arg1596His | |
| NM_001165964.1:c.4703G>A | NP_001159436.1:p.Arg1568His | |
| NM_001202435.1:c.4787G>A | NP_001189364.1:p.Arg1596His | |
| NM_006920.4:c.4754G>A , LRG_8t1:c.4754G>A | NP_008851.3:p.Arg1585His | |
| NR_110598.1:n.176-21402C>T | ||
| XM_011511598.1:c.4787G>A | XP_011509900.1:p.Arg1596His | |
| XM_011511599.1:c.4787G>A | XP_011509901.1:p.Arg1596His | |
| XM_011511600.1:c.4787G>A | XP_011509902.1:p.Arg1596His | |
| XM_011511601.1:c.4787G>A | XP_011509903.1:p.Arg1596His | |
| XM_011511602.1:c.4787G>A | XP_011509904.1:p.Arg1596His | |
| XM_011511603.1:c.4784G>A | XP_011509905.1:p.Arg1595His | |
| XM_011511604.1:c.4754G>A | XP_011509906.1:p.Arg1585His | |
| XM_011511605.1:c.4751G>A | XP_011509907.1:p.Arg1584His | |
| XM_011511606.1:c.4703G>A | XP_011509908.1:p.Arg1568His | |
| XM_011511607.1:c.4505G>A | XP_011509909.1:p.Arg1502His | |
| NM_001165963.2:c.4787G>A | NP_001159435.1:p.Arg1596His | |
| NM_001165964.2:c.4703G>A | NP_001159436.1:p.Arg1568His | |
| NM_001202435.2:c.4787G>A | NP_001189364.1:p.Arg1596His | |
| NM_001353948.1:c.4787G>A | NP_001340877.1:p.Arg1596His | |
| NM_001353949.1:c.4754G>A | NP_001340878.1:p.Arg1585His | |
| NM_001353950.1:c.4754G>A | NP_001340879.1:p.Arg1585His | |
| NM_001353951.1:c.4754G>A | NP_001340880.1:p.Arg1585His | |
| NM_001353952.1:c.4754G>A | NP_001340881.1:p.Arg1585His | |
| NM_001353954.1:c.4751G>A | NP_001340883.1:p.Arg1584His | |
| NM_001353955.1:c.4751G>A | NP_001340884.1:p.Arg1584His | |
| NM_001353957.1:c.4703G>A | NP_001340886.1:p.Arg1568His | |
| NM_001353958.1:c.4703G>A | NP_001340887.1:p.Arg1568His | |
| NM_001353960.1:c.4700G>A | NP_001340889.1:p.Arg1567His | |
| NM_001353961.1:c.2345G>A | NP_001340890.1:p.Arg782His | |
| NM_006920.5:c.4754G>A | NP_008851.3:p.Arg1585His | |
| NR_148667.1:n.5223G>A | ||
| XR_001738883.1:n.5237G>A | ||
| XR_001738884.1:n.5209G>A | ||
| NM_001165963.3:c.4787G>A | NP_001159435.1:p.Arg1596His | |
| NM_001165964.3:c.4703G>A | NP_001159436.1:p.Arg1568His | |
| NM_001202435.3:c.4787G>A | NP_001189364.1:p.Arg1596His | |
| NM_001353948.2:c.4787G>A | NP_001340877.1:p.Arg1596His | |
| NM_001353949.2:c.4754G>A | NP_001340878.1:p.Arg1585His | |
| NM_001353950.2:c.4754G>A | NP_001340879.1:p.Arg1585His | |
| NM_001353951.2:c.4754G>A | NP_001340880.1:p.Arg1585His | |
| NM_001353952.2:c.4754G>A | NP_001340881.1:p.Arg1585His | |
| NM_001353954.2:c.4751G>A | NP_001340883.1:p.Arg1584His | |
| NM_001353955.2:c.4751G>A | NP_001340884.1:p.Arg1584His | |
| NM_001353957.2:c.4703G>A | NP_001340886.1:p.Arg1568His | |
| NM_001353958.2:c.4703G>A | NP_001340887.1:p.Arg1568His | |
| NM_001353960.2:c.4700G>A | NP_001340889.1:p.Arg1567His | |
| NM_001353961.2:c.2345G>A | NP_001340890.1:p.Arg782His | |
| NM_006920.6:c.4754G>A | NP_008851.3:p.Arg1585His | |
| NR_148667.2:n.5204G>A | ||
| NM_001165963.4:c.4787G>A MANE Select | NP_001159435.1:p.Arg1596His |