Linked Data
ClinVar Variation Id:
350467
dbSNP Id:
rs758045328
ExAC:
5:118861634 T / C
gnomAD v2:
5-118861634-T-C
gnomAD v3:
5-119525939-T-C
gnomAD v4:
5-119525939-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119525939T>C , CM000667.2:g.119525939T>C | GRCh38 |
| NC_000005.9:g.118861634T>C , CM000667.1:g.118861634T>C | GRCh37 |
| NC_000005.8:g.118889533T>C | NCBI36 |
| NG_008182.1:g.78487T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1527T>C | ENSP00000426272.2:p.His509= | |
| ENST00000518349.6:c.840T>C | ENSP00000507185.1:p.His280= | |
| ENST00000520244.6:n.3334T>C | ||
| ENST00000682445.1:c.*1477T>C | ENSP00000508061.1:n.*1477T>C | |
| ENST00000682531.1:n.3488T>C | ||
| ENST00000682626.1:c.*1102T>C | ENSP00000507857.1:n.*1102T>C | |
| ENST00000682996.1:c.1524T>C | ENSP00000507792.1:p.His508= | |
| ENST00000683265.1:n.3382T>C | ||
| ENST00000683335.1:n.2998T>C | ||
| ENST00000683371.1:c.*1726T>C | ENSP00000508376.1:n.*1726T>C | |
| ENST00000683372.1:n.3606T>C | ||
| ENST00000683390.1:n.3286T>C | ||
| ENST00000683476.1:n.438T>C | ||
| ENST00000683549.1:n.3210T>C | ||
| ENST00000683936.1:c.*3174T>C | ENSP00000507721.1:n.*3174T>C | |
| ENST00000683974.1:n.3325T>C | ||
| ENST00000683996.1:c.*806T>C | ENSP00000507060.1:n.*806T>C | |
| ENST00000684131.1:n.3128T>C | ||
| ENST00000684160.1:c.*1286T>C | ENSP00000507821.1:n.*1286T>C | |
| ENST00000684214.1:c.1596T>C | ENSP00000508071.1:p.His532= | |
| ENST00000414835.7:c.1671T>C | ENSP00000411960.3:p.His557= | |
| ENST00000510025.7:c.1596T>C MANE Select | ENSP00000424940.3:p.His532= | |
| ENST00000643250.1:c.*1468T>C | ENSP00000494737.1:n.*1468T>C | |
| ENST00000644146.1:c.*2867T>C | ENSP00000494808.1:n.*2867T>C | |
| ENST00000645099.1:c.1155T>C | ENSP00000496091.1:p.His385= | |
| ENST00000645702.1:c.*999T>C | ENSP00000496432.1:n.*999T>C | |
| ENST00000645832.1:c.*1481T>C | ENSP00000494316.1:n.*1481T>C | |
| ENST00000646058.1:c.1596T>C | ENSP00000493579.1:p.His532= | |
| ENST00000646355.1:c.*1602T>C | ENSP00000493801.1:n.*1602T>C | |
| ENST00000646554.1:c.*1574T>C | ENSP00000494542.1:n.*1574T>C | |
| ENST00000647335.1:c.*1563T>C | ENSP00000495180.1:n.*1563T>C | |
| ENST00000647342.1:c.*1527T>C | ENSP00000494992.1:n.*1527T>C | |
| ENST00000256216.10:c.1596T>C | ENSP00000256216.6:p.His532= | |
| ENST00000414835.6:c.1176T>C | ENSP00000411960.2:p.His392= | |
| ENST00000442060.7:c.*158T>C | ENSP00000390208.3:n.*158T>C | |
| ENST00000504811.5:c.1671T>C | ENSP00000420914.1:p.His557= | |
| ENST00000507353.1:n.204T>C | ||
| ENST00000509514.5:c.810T>C | ENSP00000426272.1:p.His270= | |
| ENST00000509951.5:n.51T>C | ||
| ENST00000510025.5:c.1524T>C | ENSP00000424940.1:p.His508= | |
| ENST00000513628.5:c.1185T>C | ENSP00000425993.1:p.His395= | |
| ENST00000515235.6:n.3349T>C | ||
| ENST00000515320.5:c.1542T>C | ENSP00000424613.1:p.His514= | |
| ENST00000518349.5:n.730T>C | ||
| ENST00000520244.5:n.379T>C | ||
| ENST00000522415.5:n.263T>C | ||
| NM_000414.3:c.1596T>C | NP_000405.1:p.His532= | |
| NM_001199291.2:c.1671T>C | NP_001186220.1:p.His557= | |
| NM_001199292.1:c.1542T>C | NP_001186221.1:p.His514= | |
| NM_001292027.1:c.1524T>C | NP_001278956.1:p.His508= | |
| NM_001292028.1:c.1176T>C | NP_001278957.1:p.His392= | |
| NM_000414.4:c.1596T>C MANE Select | NP_000405.1:p.His532= | |
| NM_001199291.3:c.1671T>C | NP_001186220.1:p.His557= | |
| NM_001199292.2:c.1542T>C | NP_001186221.1:p.His514= | |
| NM_001292027.2:c.1524T>C | NP_001278956.1:p.His508= | |
| NM_001292028.2:c.1176T>C | NP_001278957.1:p.His392= | |
| NM_001374497.1:c.1587T>C | NP_001361426.1:p.His529= | |
| NM_001374498.1:c.1524T>C | NP_001361427.1:p.His508= | |
| NM_001374499.1:c.1269T>C | NP_001361428.1:p.His423= | |
| NM_001374500.1:c.1155T>C | NP_001361429.1:p.His385= | |
| NM_001374501.1:c.1185T>C | NP_001361430.1:p.His395= | |
| NM_001374502.1:c.1185T>C | NP_001361431.1:p.His395= | |
| NM_001374503.1:c.1185T>C | NP_001361432.1:p.His395= | |
| NR_164653.1:n.1693T>C | ||
| NR_164654.1:n.1961T>C |