Linked Data
dbSNP Id:
rs1048627
gnomAD v2:
4-95587587-T-C
gnomAD v3:
4-94666436-T-C
gnomAD v4:
4-94666436-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.94666436T>C , CM000666.2:g.94666436T>C | GRCh38 |
| NC_000004.11:g.95587587T>C , CM000666.1:g.95587587T>C | GRCh37 |
| NC_000004.10:g.95806610T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317968.9:c.*2369T>C MANE Select | ENSP00000321746.4:n.*2369T>C | |
| ENST00000317968.8:c.*2369T>C | ENSP00000321746.4:n.*2369T>C | |
| ENST00000437932.5:c.*2369T>C | ENSP00000398469.2:n.*2369T>C | |
| ENST00000503974.5:c.*410T>C | ENSP00000424297.1:n.*410T>C | |
| ENST00000615540.4:c.*2369T>C | ENSP00000480359.1:n.*2369T>C | |
| NM_001011513.3:c.*2369T>C | NP_001011513.3:n.*2369T>C | |
| NM_001256425.1:c.*2369T>C | NP_001243354.1:n.*2369T>C | |
| NM_001256426.1:c.*2369T>C | NP_001243355.1:n.*2369T>C | |
| NM_001256427.1:c.*410T>C | NP_001243356.1:n.*410T>C | |
| NM_001256428.1:c.*2369T>C | NP_001243357.1:n.*2369T>C | |
| NM_006457.4:c.*2369T>C | NP_006448.4:n.*2369T>C | |
| XM_005262693.3:c.*2369T>C | XP_005262750.1:n.*2369T>C | |
| XM_005262695.3:c.*2369T>C | XP_005262752.1:n.*2369T>C | |
| XM_005262696.3:c.*2369T>C | XP_005262753.1:n.*2369T>C | |
| XM_005262698.3:c.*2369T>C | XP_005262755.1:n.*2369T>C | |
| XM_006714066.2:c.*2369T>C | XP_006714129.1:n.*2369T>C | |
| XM_006714067.2:c.*2369T>C | XP_006714130.1:n.*2369T>C | |
| XM_006714068.2:c.*2369T>C | XP_006714131.1:n.*2369T>C | |
| XM_006714069.2:c.*2369T>C | XP_006714132.1:n.*2369T>C | |
| XM_006714070.2:c.*2369T>C | XP_006714133.1:n.*2369T>C | |
| XM_011531543.1:c.*2369T>C | XP_011529845.1:n.*2369T>C | |
| XM_005262693.5:c.*2369T>C | XP_005262750.1:n.*2369T>C | |
| XM_005262695.5:c.*2369T>C | XP_005262752.1:n.*2369T>C | |
| XM_005262696.4:c.*2369T>C | XP_005262753.1:n.*2369T>C | |
| XM_005262698.4:c.*2369T>C | XP_005262755.1:n.*2369T>C | |
| XM_006714066.4:c.*2369T>C | XP_006714129.1:n.*2369T>C | |
| XM_006714068.3:c.*2369T>C | XP_006714131.1:n.*2369T>C | |
| XM_006714069.4:c.*2369T>C | XP_006714132.1:n.*2369T>C | |
| XM_006714070.3:c.*2369T>C | XP_006714133.1:n.*2369T>C | |
| XM_011531543.3:c.*2369T>C | XP_011529845.1:n.*2369T>C | |
| XM_017007657.2:c.*2369T>C | XP_016863146.1:n.*2369T>C | |
| XM_017007658.1:c.*2369T>C | XP_016863147.1:n.*2369T>C | |
| NM_001011513.4:c.*2369T>C | NP_001011513.4:n.*2369T>C | |
| NM_001256427.2:c.*410T>C | NP_001243356.2:n.*410T>C | |
| NM_001256428.2:c.*2369T>C | NP_001243357.2:n.*2369T>C | |
| NM_006457.5:c.*2369T>C MANE Select | NP_006448.5:n.*2369T>C | |
| NM_001256425.2:c.*2369T>C | NP_001243354.2:n.*2369T>C | |
| NM_001256426.2:c.*2369T>C | NP_001243355.2:n.*2369T>C |