Linked Data
ClinVar Variation Id:
391058
dbSNP Id:
rs778515935
ExAC:
11:68700757 C / T
gnomAD v2:
11-68700757-C-T
gnomAD v3:
11-68933289-C-T
gnomAD v4:
11-68933289-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933289C>T , CM000673.2:g.68933289C>T | GRCh38 |
| NC_000011.9:g.68700757C>T , CM000673.1:g.68700757C>T | GRCh37 |
| NC_000011.8:g.68457333C>T | NCBI36 |
| NG_007976.1:g.34439C>T , LRG_250:g.34439C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1236-10C>T MANE Select | ENSP00000255078.4:n.1236-10C>T | |
| ENST00000536803.2:n.137C>T | ||
| ENST00000674955.1:c.1348-10C>T | ENSP00000502463.1:n.1348-10C>T | |
| ENST00000675118.1:c.724-10C>T | ||
| ENST00000675310.1:n.373-10C>T | ||
| ENST00000675615.1:c.1236-10C>T | ENSP00000502413.1:n.1236-10C>T | |
| ENST00000675648.1:n.611-10C>T | ||
| ENST00000675997.1:n.113-1175C>T | ||
| ENST00000676149.1:n.310-10C>T | ||
| ENST00000676173.1:n.1981-10C>T | ||
| ENST00000676228.1:c.*559-10C>T | ENSP00000502375.1:n.*559-10C>T | |
| ENST00000255078.7:c.1236-10C>T | ENSP00000255078.3:n.1236-10C>T | |
| ENST00000536803.1:n.345-10C>T | ||
| ENST00000537458.5:n.343C>T | ||
| ENST00000539064.5:n.985C>T | ||
| ENST00000543739.5:n.343C>T | ||
| ENST00000568742.1:n.458-10C>T | ||
| NM_002180.2:c.1236-10C>T , LRG_250t1:c.1236-10C>T | NP_002171.2:n.1236-10C>T | |
| XM_005273974.2:c.225-10C>T | XP_005274031.1:n.225-10C>T | |
| XM_005273975.2:c.108-10C>T | XP_005274032.1:n.108-10C>T | |
| XM_011544994.1:c.3-10C>T | XP_011543296.1:n.3-10C>T | |
| XR_247198.1:n.2039-10C>T | ||
| XR_949903.1:n.1338-10C>T | ||
| XM_005273975.3:c.108-10C>T | XP_005274032.1:n.108-10C>T | |
| XM_017017669.2:c.225-10C>T | XP_016873158.1:n.225-10C>T | |
| XM_017017670.2:c.225-10C>T | XP_016873159.1:n.225-10C>T | |
| XM_017017671.2:c.1236-10C>T | XP_016873160.1:n.1236-10C>T | |
| XR_949903.3:n.1334-10C>T | ||
| NM_002180.3:c.1236-10C>T MANE Select | NP_002171.2:n.1236-10C>T |