Linked Data
ClinVar Variation Id:
373649
dbSNP Id:
rs1057518529
gnomAD v2:
5-125885927-A-G
gnomAD v3:
5-126550235-A-G
gnomAD v4:
5-126550235-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126550235A>G , CM000667.2:g.126550235A>G | GRCh38 |
| NC_000005.9:g.125885927A>G , CM000667.1:g.125885927A>G | GRCh37 |
| NC_000005.8:g.125913826A>G | NCBI36 |
| NG_008600.2:g.50156T>C | |
| NG_008600.3:g.50156T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1376T>C MANE Select | ENSP00000387123.3:p.Ile459Thr | |
| ENST00000458249.6:c.*1285T>C | ENSP00000403929.1:n.*1285T>C | |
| ENST00000497231.7:n.1803T>C | ||
| ENST00000635851.1:c.1374T>C | ||
| ENST00000636062.1:n.1271T>C | ||
| ENST00000636225.1:c.*1320T>C | ENSP00000490797.1:n.*1320T>C | |
| ENST00000636286.1:n.1094T>C | ||
| ENST00000636482.1:n.863T>C | ||
| ENST00000636743.1:c.1256T>C | ENSP00000489725.1:p.Ile419Thr | |
| ENST00000636808.1:c.*1185T>C | ENSP00000490833.1:n.*1185T>C | |
| ENST00000636872.1:c.1536T>C | ENSP00000490919.1:n.1536T>C | |
| ENST00000636879.1:c.1421T>C | ENSP00000490811.1:p.Ile474Thr | |
| ENST00000636886.1:c.1175T>C | ENSP00000490371.1:p.Ile392Thr | |
| ENST00000637206.1:c.1196T>C | ENSP00000489895.1:p.Ile399Thr | |
| ENST00000637272.1:c.1367T>C | ENSP00000489686.1:p.Ile456Thr | |
| ENST00000637292.1:c.832T>C | ||
| ENST00000637782.1:c.1376T>C | ENSP00000490024.1:p.Ile459Thr | |
| ENST00000638008.1:c.*1220T>C | ENSP00000490400.1:n.*1220T>C | |
| ENST00000638010.1:n.1322T>C | ||
| ENST00000409134.7:c.1376T>C | ENSP00000387123.3:p.Ile459Thr | |
| ENST00000447989.6:c.1265T>C | ENSP00000414132.2:p.Ile422Thr | |
| ENST00000476328.1:n.141T>C | ||
| ENST00000497231.6:n.1586T>C | ||
| ENST00000553117.5:c.1184T>C | ENSP00000448593.1:p.Ile395Thr | |
| NM_001182.4:c.1376T>C | NP_001173.2:p.Ile459Thr | |
| NM_001201377.1:c.1292T>C | NP_001188306.1:p.Ile431Thr | |
| NM_001202404.1:c.1265T>C | NP_001189333.1:p.Ile422Thr | |
| XM_011543417.1:c.971T>C | XP_011541719.1:p.Ile324Thr | |
| XM_011543417.2:c.971T>C | XP_011541719.1:p.Ile324Thr | |
| NM_001182.5:c.1376T>C MANE Select | NP_001173.2:p.Ile459Thr | |
| NM_001201377.2:c.1292T>C | NP_001188306.1:p.Ile431Thr | |
| NM_001202404.2:c.1184T>C | NP_001189333.2:p.Ile395Thr |