Linked Data
dbSNP Id:
rs1765175376
gnomAD v4:
5-162149145-C-T
MyVariant Identifiers:
chr5:g.161576151C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162149145C>T , CM000667.2:g.162149145C>T | GRCh38 |
| NC_000005.9:g.161576151C>T , CM000667.1:g.161576151C>T | GRCh37 |
| NC_000005.8:g.161508729C>T | NCBI36 |
| NG_009290.1:g.86504C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.961C>T | ||
| ENST00000361925.9:c.1080C>T | ENSP00000354651.5:p.Thr360= | |
| ENST00000522053.2:n.851C>T | ||
| ENST00000523372.2:c.1043C>T | ||
| ENST00000638253.1:n.214C>T | ||
| ENST00000638552.1:c.675C>T | ENSP00000491763.1:p.Thr225= | |
| ENST00000638660.1:c.675C>T | ENSP00000492869.1:p.Thr225= | |
| ENST00000638772.1:c.960C>T | ENSP00000491557.1:p.Thr320= | |
| ENST00000638877.1:c.837C>T | ||
| ENST00000639046.1:c.351C>T | ENSP00000492659.1:p.Thr117= | |
| ENST00000639111.2:c.960C>T | ENSP00000492125.2:p.Thr320= | |
| ENST00000639213.2:c.960C>T MANE Select | ENSP00000491909.2:p.Thr320= | |
| ENST00000639278.1:c.888C>T | ENSP00000491958.1:p.Thr296= | |
| ENST00000639384.1:c.960C>T | ENSP00000491240.1:p.Thr320= | |
| ENST00000639424.1:c.*160C>T | ENSP00000491245.1:n.*160C>T | |
| ENST00000639683.1:c.894C>T | ENSP00000492581.1:p.Thr298= | |
| ENST00000639975.1:c.894C>T | ENSP00000492096.1:p.Thr298= | |
| ENST00000640500.1:n.258C>T | ||
| ENST00000640574.1:c.675C>T | ENSP00000491582.1:p.Thr225= | |
| ENST00000640739.1:n.3491C>T | ||
| ENST00000640910.1:c.398C>T | ||
| ENST00000640985.1:c.873C>T | ENSP00000492293.1:p.Thr291= | |
| ENST00000641017.1:c.960C>T | ENSP00000493461.1:p.Thr320= | |
| ENST00000356592.7:c.960C>T | ENSP00000349000.3:p.Thr320= | |
| ENST00000361925.8:c.960C>T | ENSP00000354651.4:p.Thr320= | |
| ENST00000414552.6:c.1080C>T | ENSP00000410732.2:p.Thr360= | |
| ENST00000522990.5:c.*562C>T | ENSP00000430732.1:n.*562C>T | |
| ENST00000523372.1:c.1081C>T | ENSP00000430124.1:n.1081C>T | |
| NM_000816.3:c.960C>T | NP_000807.2:p.Thr320= | |
| NM_198903.2:c.1080C>T | NP_944493.2:p.Thr360= | |
| NM_198904.2:c.960C>T | NP_944494.1:p.Thr320= | |
| NM_001375339.1:c.951C>T | NP_001362268.1:p.Thr317= | |
| NM_001375340.1:c.923-2585C>T | NP_001362269.1:n.923-2585C>T | |
| NM_001375341.1:c.957C>T | NP_001362270.1:p.Thr319= | |
| NM_001375342.1:c.957C>T | NP_001362271.1:p.Thr319= | |
| NM_001375343.1:c.1080C>T | NP_001362272.1:p.Thr360= | |
| NM_001375344.1:c.999C>T | NP_001362273.1:p.Thr333= | |
| NM_001375345.1:c.894C>T | NP_001362274.1:p.Thr298= | |
| NM_001375346.1:c.894C>T | NP_001362275.1:p.Thr298= | |
| NM_001375347.1:c.873C>T | NP_001362276.1:p.Thr291= | |
| NM_001375348.1:c.540C>T | NP_001362277.1:p.Thr180= | |
| NM_001375349.1:c.675C>T | NP_001362278.1:p.Thr225= | |
| NM_001375350.1:c.540C>T | NP_001362279.1:p.Thr180= | |
| NM_198904.3:c.960C>T | NP_944494.1:p.Thr320= | |
| NM_198904.4:c.960C>T MANE Select | NP_944494.1:p.Thr320= |