Linked Data
dbSNP Id:
rs11073001
ExAC:
15:81592802 A / G
gnomAD v2:
15-81592802-A-G
gnomAD v3:
15-81300461-A-G
gnomAD v4:
15-81300461-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.81300461A>G , CM000677.2:g.81300461A>G | GRCh38 |
| NC_000015.9:g.81592802A>G , CM000677.1:g.81592802A>G | GRCh37 |
| NC_000015.8:g.79379857A>G | NCBI36 |
| NG_029933.1:g.108584A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302987.10:c.3276A>G | ENSP00000302935.5:p.Thr1092= | |
| ENST00000706926.1:c.3135A>G | ENSP00000516648.1:p.Thr1045= | |
| ENST00000302987.9:c.3276A>G | ENSP00000302935.5:p.Thr1092= | |
| ENST00000683961.1:c.3135A>G MANE Select | ENSP00000508085.1:p.Thr1045= | |
| ENST00000302987.8:c.3135A>G | ENSP00000302935.4:p.Thr1045= | |
| ENST00000360547.9:c.*2312A>G | ENSP00000456972.1:n.*2312A>G | |
| ENST00000394652.6:c.1032A>G | ENSP00000378147.2:p.Thr344= | |
| ENST00000394660.6:c.3135A>G | ENSP00000378155.2:p.Thr1045= | |
| ENST00000558332.3:c.1046A>G | ||
| ENST00000558857.5:c.1249A>G | ENSP00000453131.1:n.1249A>G | |
| ENST00000559388.4:c.1032A>G | ENSP00000458125.2:p.Thr344= | |
| ENST00000560115.5:c.3105A>G | ||
| NM_001172128.1:c.3135A>G | NP_001165599.1:p.Thr1045= | |
| NM_004513.5:c.1032A>G | NP_004504.3:p.Thr344= | |
| NM_172217.3:c.3135A>G | NP_757366.2:p.Thr1045= | |
| XM_005254342.2:c.3276A>G | XP_005254399.1:p.Thr1092= | |
| XM_005254346.3:c.1032A>G | XP_005254403.1:p.Thr344= | |
| XM_011521518.1:c.2997A>G | XP_011519820.1:p.Thr999= | |
| XM_011521519.1:c.3135A>G | XP_011519821.1:p.Thr1045= | |
| XM_011521520.1:c.3135A>G | XP_011519822.1:p.Thr1045= | |
| XR_931805.1:n.3312A>G | ||
| NM_001352684.1:c.1305A>G | NP_001339613.1:p.Thr435= | |
| NM_001352685.1:c.2625A>G | NP_001339614.1:p.Thr875= | |
| NM_001352686.1:c.3288A>G | NP_001339615.1:p.Thr1096= | |
| NM_172217.4:c.3135A>G | NP_757366.2:p.Thr1045= | |
| NR_148035.1:n.3347A>G | ||
| NM_001172128.2:c.3135A>G | NP_001165599.1:p.Thr1045= | |
| NM_001352684.2:c.1305A>G | NP_001339613.1:p.Thr435= | |
| NM_001352685.2:c.2625A>G | NP_001339614.1:p.Thr875= | |
| NM_004513.6:c.1032A>G | NP_004504.3:p.Thr344= | |
| NM_172217.5:c.3135A>G MANE Select | NP_757366.2:p.Thr1045= | |
| NR_148035.2:n.3346A>G | ||
| NM_001352686.2:c.3288A>G | NP_001339615.1:p.Thr1096= |