Linked Data
ClinVar Variation Id:
796895
ClinVar RCV Id:
RCV000980323
dbSNP Id:
rs779705890
ExAC:
11:85956367 C / T
gnomAD v2:
11-85956367-C-T
gnomAD v3:
11-86245325-C-T
gnomAD v4:
11-86245325-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86245325C>T , CM000673.2:g.86245325C>T | GRCh38 |
| NC_000011.9:g.85956367C>T , CM000673.1:g.85956367C>T | GRCh37 |
| NC_000011.8:g.85634015C>T | NCBI36 |
| NG_029595.1:g.5562C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707108.1:c.10-4971C>T | ENSP00000516737.1:n.10-4971C>T | |
| ENST00000263360.11:c.96C>T MANE Select | ENSP00000263360.6:p.Asp32= | |
| ENST00000672825.1:c.96C>T | ENSP00000500834.1:p.Asp32= | |
| ENST00000673233.2:c.276C>T | ENSP00000500914.2:p.Asp92= | |
| ENST00000263360.10:c.96C>T | ENSP00000263360.6:p.Asp32= | |
| ENST00000327320.8:c.96C>T | ENSP00000315587.4:p.Asp32= | |
| ENST00000351625.10:c.96C>T | ENSP00000338186.5:p.Asp32= | |
| ENST00000525244.5:n.58C>T | ||
| ENST00000528180.5:c.96C>T | ENSP00000431778.1:p.Asp32= | |
| ENST00000534595.1:c.92C>T | ||
| NM_001308007.1:c.96C>T | NP_001294936.1:p.Asp32= | |
| NM_003797.3:c.96C>T | NP_003788.2:p.Asp32= | |
| NM_003797.4:c.96C>T | NP_003788.2:p.Asp32= | |
| NM_152991.2:c.96C>T | NP_694536.1:p.Asp32= | |
| XM_005274373.1:c.96C>T | XP_005274430.1:p.Asp32= | |
| XM_011545330.1:c.96C>T | XP_011543632.1:p.Asp32= | |
| XM_011545331.1:c.96C>T | XP_011543633.1:p.Asp32= | |
| XR_247215.2:n.782C>T | ||
| NM_001330334.1:c.96C>T | NP_001317263.1:p.Asp32= | |
| XM_011545330.2:c.96C>T | XP_011543632.1:p.Asp32= | |
| XM_011545331.2:c.96C>T | XP_011543633.1:p.Asp32= | |
| XM_017018512.2:c.96C>T | XP_016874001.1:p.Asp32= | |
| XM_017018513.2:c.96C>T | XP_016874002.1:p.Asp32= | |
| XR_001748022.2:n.573C>T | ||
| XR_247215.4:n.573C>T | ||
| NM_003797.5:c.96C>T MANE Select | NP_003788.2:p.Asp32= | |
| NM_001308007.2:c.96C>T | NP_001294936.1:p.Asp32= | |
| NM_001330334.2:c.96C>T | NP_001317263.1:p.Asp32= |