Linked Data
ClinVar Variation Id:
225967
ClinVar RCV Id:
RCV000611671
dbSNP Id:
rs1954787
gnomAD v2:
11-120663363-T-C
gnomAD v3:
11-120792654-T-C
gnomAD v4:
11-120792654-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.120792654T>C , CM000673.2:g.120792654T>C | GRCh38 |
| NC_000011.9:g.120663363T>C , CM000673.1:g.120663363T>C | GRCh37 |
| NC_000011.8:g.120168573T>C | NCBI36 |
| NG_042194.1:g.285909T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527524.8:c.83-10039T>C MANE Select | ENSP00000435648.2:n.83-10039T>C | |
| ENST00000638419.1:c.83-10039T>C | ENSP00000492086.1:n.83-10039T>C | |
| ENST00000438375.2:c.83-10039T>C | ENSP00000404063.2:n.83-10039T>C | |
| ENST00000526536.1:n.283-10039T>C | ||
| ENST00000527524.6:c.83-10039T>C | ENSP00000435648.1:n.83-10039T>C | |
| ENST00000533291.5:n.481-10039T>C | ||
| NM_001282470.2:c.83-10039T>C | NP_001269399.1:n.83-10039T>C | |
| NM_001282473.2:c.83-10039T>C | NP_001269402.1:n.83-10039T>C | |
| NM_014619.4:c.83-10039T>C | NP_055434.2:n.83-10039T>C | |
| XM_011542783.1:c.83-10039T>C | XP_011541085.1:n.83-10039T>C | |
| XM_011542784.1:c.83-10039T>C | XP_011541086.1:n.83-10039T>C | |
| XM_011542785.1:c.83-10039T>C | XP_011541087.1:n.83-10039T>C | |
| XM_011542784.2:c.83-10039T>C | XP_011541086.1:n.83-10039T>C | |
| XM_017017621.2:c.83-10039T>C | XP_016873110.1:n.83-10039T>C | |
| XM_017017622.2:c.83-10039T>C | XP_016873111.1:n.83-10039T>C | |
| NM_014619.5:c.83-10039T>C MANE Select | NP_055434.2:n.83-10039T>C | |
| NM_001282470.3:c.83-10039T>C | NP_001269399.1:n.83-10039T>C | |
| NM_001282473.3:c.83-10039T>C | NP_001269402.1:n.83-10039T>C |