Linked Data
ClinVar Variation Id:
284364
dbSNP Id:
rs201147313
ExAC:
11:68685359 G / T
gnomAD v2:
11-68685359-G-T
gnomAD v3:
11-68917891-G-T
gnomAD v4:
11-68917891-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68917891G>T , CM000673.2:g.68917891G>T | GRCh38 |
| NC_000011.9:g.68685359G>T , CM000673.1:g.68685359G>T | GRCh37 |
| NC_000011.8:g.68441935G>T | NCBI36 |
| NG_007976.1:g.19041G>T , LRG_250:g.19041G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1060+8G>T MANE Select | ENSP00000255078.4:n.1060+8G>T | |
| ENST00000674745.1:c.148+8G>T | ENSP00000502738.1:n.148+8G>T | |
| ENST00000674775.1:n.148+8G>T | ||
| ENST00000674955.1:c.1060+8G>T | ENSP00000502463.1:n.1060+8G>T | |
| ENST00000675118.1:c.548+8G>T | ||
| ENST00000675305.1:c.380+8G>T | ENSP00000502365.1:n.380+8G>T | |
| ENST00000675493.1:n.148+8G>T | ||
| ENST00000675615.1:c.1060+8G>T | ENSP00000502413.1:n.1060+8G>T | |
| ENST00000675648.1:n.435+8G>T | ||
| ENST00000675684.1:c.148+8G>T | ENSP00000502192.1:n.148+8G>T | |
| ENST00000676173.1:n.1104+8G>T | ||
| ENST00000676228.1:c.*383+8G>T | ENSP00000502375.1:n.*383+8G>T | |
| ENST00000255078.7:c.1060+8G>T | ENSP00000255078.3:n.1060+8G>T | |
| NM_002180.2:c.1060+8G>T , LRG_250t1:c.1060+8G>T | NP_002171.2:n.1060+8G>T | |
| XM_005273974.2:c.49+8G>T | XP_005274031.1:n.49+8G>T | |
| XM_005273976.1:c.1060+8G>T | XP_005274033.1:n.1060+8G>T | |
| XR_247198.1:n.1162+8G>T | ||
| XR_949903.1:n.1162+8G>T | ||
| XM_005273976.2:c.1060+8G>T | XP_005274033.1:n.1060+8G>T | |
| XM_017017669.2:c.49+8G>T | XP_016873158.1:n.49+8G>T | |
| XM_017017670.2:c.49+8G>T | XP_016873159.1:n.49+8G>T | |
| XM_017017671.2:c.1060+8G>T | XP_016873160.1:n.1060+8G>T | |
| XR_949903.3:n.1158+8G>T | ||
| NM_002180.3:c.1060+8G>T MANE Select | NP_002171.2:n.1060+8G>T |