Linked Data
ClinVar Variation Id:
310948
dbSNP Id:
rs10131
gnomAD v2:
13-108859846-C-T
gnomAD v3:
13-108207498-C-T
gnomAD v4:
13-108207498-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108207498C>T , CM000675.2:g.108207498C>T | GRCh38 |
| NC_000013.10:g.108859846C>T , CM000675.1:g.108859846C>T | GRCh37 |
| NC_000013.9:g.107657847C>T | NCBI36 |
| NG_007396.1:g.13037G>A , LRG_79:g.13037G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614526.2:c.*1035G>A | ENSP00000480814.1:n.*1035G>A | |
| ENST00000686095.1:c.*1035G>A | ENSP00000509942.1:n.*1035G>A | |
| ENST00000686913.1:c.*1035G>A | ENSP00000509299.1:n.*1035G>A | |
| ENST00000687164.1:c.*1035G>A | ENSP00000508512.1:n.*1035G>A | |
| ENST00000687822.1:c.*1035G>A | ENSP00000509344.1:n.*1035G>A | |
| ENST00000688396.1:c.*1035G>A | ENSP00000509564.1:n.*1035G>A | |
| ENST00000688455.1:c.*1035G>A | ENSP00000509304.1:n.*1035G>A | |
| ENST00000688529.1:c.*1035G>A | ENSP00000509906.1:n.*1035G>A | |
| ENST00000689762.1:c.*1035G>A | ENSP00000508867.1:n.*1035G>A | |
| ENST00000692222.1:c.*1035G>A | ENSP00000509226.1:n.*1035G>A | |
| ENST00000442234.6:c.*1035G>A MANE Select | ENSP00000402030.1:n.*1035G>A | |
| ENST00000356922.5:c.*1035G>A | ENSP00000349393.3:n.*1035G>A | |
| ENST00000405925.2:c.*1035G>A | ENSP00000385955.1:n.*1035G>A | |
| ENST00000442234.5:c.*1035G>A | ENSP00000402030.1:n.*1035G>A | |
| ENST00000611712.4:c.*1035G>A | ENSP00000484288.1:n.*1035G>A | |
| ENST00000614526.1:c.*1035G>A | ENSP00000480814.1:n.*1035G>A | |
| NM_001098268.1:c.*1035G>A | NP_001091738.1:n.*1035G>A | |
| NM_002312.3:c.*1035G>A , LRG_79t1:c.*1035G>A | NP_002303.2:n.*1035G>A | |
| NM_206937.1:c.*1035G>A | NP_996820.1:n.*1035G>A | |
| XM_005254056.1:c.*1035G>A | XP_005254113.1:n.*1035G>A | |
| XM_005254057.3:c.*1035G>A | XP_005254114.1:n.*1035G>A | |
| XM_005254058.2:c.*1035G>A | XP_005254115.1:n.*1035G>A | |
| XM_006719951.2:c.*1035G>A | XP_006720014.1:n.*1035G>A | |
| XM_006719952.1:c.*1035G>A | XP_006720015.1:n.*1035G>A | |
| XM_011521091.1:c.*1035G>A | XP_011519393.1:n.*1035G>A | |
| XM_011521092.1:c.*1035G>A | XP_011519394.1:n.*1035G>A | |
| NM_001330595.1:c.*1035G>A | NP_001317524.1:n.*1035G>A | |
| NM_001352598.1:c.*1035G>A | NP_001339527.1:n.*1035G>A | |
| NM_001352599.1:c.*1035G>A | NP_001339528.1:n.*1035G>A | |
| NM_001352600.1:c.*1035G>A | NP_001339529.1:n.*1035G>A | |
| NM_001352601.1:c.*1035G>A | NP_001339530.1:n.*1035G>A | |
| NM_001352602.1:c.*1035G>A | NP_001339531.1:n.*1035G>A | |
| NM_001352603.1:c.*1035G>A | NP_001339532.1:n.*1035G>A | |
| NM_001352604.1:c.*1035G>A | NP_001339533.1:n.*1035G>A | |
| XM_005254058.4:c.*1035G>A | XP_005254115.1:n.*1035G>A | |
| XM_006719951.3:c.*1035G>A | XP_006720014.1:n.*1035G>A | |
| XM_017020564.1:c.*1035G>A | XP_016876053.1:n.*1035G>A | |
| XM_017020565.1:c.*1035G>A | XP_016876054.1:n.*1035G>A | |
| XM_017020566.1:c.*1035G>A | XP_016876055.1:n.*1035G>A | |
| XM_017020568.2:c.*1035G>A | XP_016876057.1:n.*1035G>A | |
| XM_017020571.1:c.*1035G>A | XP_016876060.1:n.*1035G>A | |
| XM_017020573.1:c.*1035G>A | XP_016876062.1:n.*1035G>A | |
| NM_001098268.2:c.*1035G>A | NP_001091738.1:n.*1035G>A | |
| NM_001352598.2:c.*1035G>A | NP_001339527.1:n.*1035G>A | |
| NM_001352599.2:c.*1035G>A | NP_001339528.1:n.*1035G>A | |
| NM_001352600.2:c.*1035G>A | NP_001339529.1:n.*1035G>A | |
| NM_001352601.2:c.*1035G>A | NP_001339530.1:n.*1035G>A | |
| NM_001352602.2:c.*1035G>A | NP_001339531.1:n.*1035G>A | |
| NM_206937.2:c.*1035G>A MANE Select | NP_996820.1:n.*1035G>A | |
| NM_001330595.2:c.*1035G>A | NP_001317524.1:n.*1035G>A | |
| NM_001352604.2:c.*1035G>A | NP_001339533.1:n.*1035G>A | |
| NM_001379095.1:c.*1035G>A | NP_001366024.1:n.*1035G>A |