Linked Data
ClinVar Variation Id:
96677
dbSNP Id:
rs78899595
ExAC:
11:22272302 C / T
gnomAD v2:
11-22272302-C-T
gnomAD v3:
11-22250756-C-T
gnomAD v4:
11-22250756-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22250756C>T , CM000673.2:g.22250756C>T | GRCh38 |
| NC_000011.9:g.22272302C>T , CM000673.1:g.22272302C>T | GRCh37 |
| NC_000011.8:g.22228878C>T | NCBI36 |
| NG_015844.1:g.62581C>T , LRG_868:g.62581C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682089.1:n.349C>T | ||
| ENST00000682266.1:c.579C>T | ENSP00000507766.1:p.Asp193= | |
| ENST00000682341.1:c.987C>T | ENSP00000508251.1:p.Asp329= | |
| ENST00000682530.1:c.*961C>T | ENSP00000506805.1:n.*961C>T | |
| ENST00000683197.1:c.987C>T | ENSP00000507641.1:p.Asp329= | |
| ENST00000683411.1:c.579C>T | ENSP00000508397.1:p.Asp193= | |
| ENST00000683437.1:c.579C>T | ENSP00000508408.1:p.Asp193= | |
| ENST00000683613.1:n.2023C>T | ||
| ENST00000683834.1:n.1229C>T | ||
| ENST00000684663.1:c.984C>T | ENSP00000508009.1:p.Asp328= | |
| ENST00000324559.9:c.1029C>T MANE Select | ENSP00000315371.9:p.Asp343= | |
| ENST00000648804.1:n.1364C>T | ||
| ENST00000324559.8:c.1029C>T | ENSP00000315371.8:p.Asp343= | |
| NM_001142649.1:c.1026C>T | NP_001136121.1:p.Asp342= | |
| NM_213599.2:c.1029C>T , LRG_868t1:c.1029C>T | NP_998764.1:p.Asp343= | |
| XM_005252820.2:c.987C>T | XP_005252877.2:p.Asp329= | |
| XM_005252821.2:c.984C>T | XP_005252878.2:p.Asp328= | |
| XM_005252822.3:c.951C>T | XP_005252879.1:p.Asp317= | |
| XM_005252823.3:c.948C>T | XP_005252880.1:p.Asp316= | |
| XM_011519949.1:c.936C>T | XP_011518251.1:p.Asp312= | |
| XM_005252820.3:c.987C>T | XP_005252877.2:p.Asp329= | |
| XM_005252821.3:c.984C>T | XP_005252878.2:p.Asp328= | |
| XM_005252822.4:c.951C>T | XP_005252879.1:p.Asp317= | |
| XM_011519949.2:c.936C>T | XP_011518251.1:p.Asp312= | |
| NM_001142649.2:c.1026C>T | NP_001136121.1:p.Asp342= | |
| NM_213599.3:c.1029C>T MANE Select | NP_998764.1:p.Asp343= |