Linked Data
dbSNP Id:
rs1370407072
gnomAD v2:
11-22271792-T-C
gnomAD v3:
11-22250246-T-C
gnomAD v4:
11-22250246-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22250246T>C , CM000673.2:g.22250246T>C | GRCh38 |
| NC_000011.9:g.22271792T>C , CM000673.1:g.22271792T>C | GRCh37 |
| NC_000011.8:g.22228368T>C | NCBI36 |
| NG_015844.1:g.62071T>C , LRG_868:g.62071T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682089.1:n.208T>C | ||
| ENST00000682266.1:c.438T>C | ENSP00000507766.1:p.Tyr146= | |
| ENST00000682341.1:c.846T>C | ENSP00000508251.1:p.Tyr282= | |
| ENST00000682530.1:c.*820T>C | ENSP00000506805.1:n.*820T>C | |
| ENST00000683197.1:c.846T>C | ENSP00000507641.1:p.Tyr282= | |
| ENST00000683411.1:c.438T>C | ENSP00000508397.1:p.Tyr146= | |
| ENST00000683437.1:c.438T>C | ENSP00000508408.1:p.Tyr146= | |
| ENST00000683613.1:n.1882T>C | ||
| ENST00000683834.1:n.1088T>C | ||
| ENST00000684663.1:c.843T>C | ENSP00000508009.1:p.Tyr281= | |
| ENST00000324559.9:c.888T>C MANE Select | ENSP00000315371.9:p.Tyr296= | |
| ENST00000648804.1:n.1223T>C | ||
| ENST00000324559.8:c.888T>C | ENSP00000315371.8:p.Tyr296= | |
| NM_001142649.1:c.885T>C | NP_001136121.1:p.Tyr295= | |
| NM_213599.2:c.888T>C , LRG_868t1:c.888T>C | NP_998764.1:p.Tyr296= | |
| XM_005252820.2:c.846T>C | XP_005252877.2:p.Tyr282= | |
| XM_005252821.2:c.843T>C | XP_005252878.2:p.Tyr281= | |
| XM_005252822.3:c.810T>C | XP_005252879.1:p.Tyr270= | |
| XM_005252823.3:c.807T>C | XP_005252880.1:p.Tyr269= | |
| XM_011519949.1:c.795T>C | XP_011518251.1:p.Tyr265= | |
| XM_005252820.3:c.846T>C | XP_005252877.2:p.Tyr282= | |
| XM_005252821.3:c.843T>C | XP_005252878.2:p.Tyr281= | |
| XM_005252822.4:c.810T>C | XP_005252879.1:p.Tyr270= | |
| XM_011519949.2:c.795T>C | XP_011518251.1:p.Tyr265= | |
| NM_001142649.2:c.885T>C | NP_001136121.1:p.Tyr295= | |
| NM_213599.3:c.888T>C MANE Select | NP_998764.1:p.Tyr296= |