Linked Data
ClinVar Variation Id:
330833
ClinVar RCV Id:
RCV002263604
dbSNP Id:
rs4252041
gnomAD v2:
2-113890610-C-T
gnomAD v3:
2-113133033-C-T
gnomAD v4:
2-113133033-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113133033C>T , CM000664.2:g.113133033C>T | GRCh38 |
| NC_000002.11:g.113890610C>T , CM000664.1:g.113890610C>T | GRCh37 |
| NC_000002.10:g.113607081C>T | NCBI36 |
| NG_021240.1:g.20141C>T , LRG_188:g.20141C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409052.6:c.*162C>T | ENSP00000387210.1:n.*162C>T | |
| ENST00000696879.1:c.*162C>T | ENSP00000512947.1:n.*162C>T | |
| ENST00000696880.1:c.*162C>T | ENSP00000512948.1:n.*162C>T | |
| ENST00000696882.1:c.*466C>T | ENSP00000512950.1:n.*466C>T | |
| ENST00000409930.4:c.*162C>T MANE Select | ENSP00000387173.3:n.*162C>T | |
| ENST00000259206.9:c.*162C>T | ENSP00000259206.5:n.*162C>T | |
| ENST00000354115.6:c.*162C>T | ENSP00000329072.3:n.*162C>T | |
| ENST00000361779.7:c.*162C>T | ENSP00000354816.3:n.*162C>T | |
| ENST00000409052.5:c.*162C>T | ENSP00000387210.1:n.*162C>T | |
| ENST00000409930.3:c.*162C>T | ENSP00000387173.3:n.*162C>T | |
| NM_000577.4:c.*162C>T | NP_000568.1:n.*162C>T | |
| NM_173841.2:c.*162C>T , LRG_188t1:c.*162C>T | NP_776213.1:n.*162C>T | |
| NM_173842.2:c.*162C>T | NP_776214.1:n.*162C>T | |
| NM_173843.2:c.*162C>T | NP_776215.1:n.*162C>T | |
| XM_005263661.3:c.*162C>T | XP_005263718.1:n.*162C>T | |
| XM_006712497.2:c.*162C>T | XP_006712560.1:n.*162C>T | |
| XM_011511121.1:c.*162C>T | XP_011509423.1:n.*162C>T | |
| NM_001318914.1:c.*162C>T | NP_001305843.1:n.*162C>T | |
| XM_005263661.4:c.*162C>T | XP_005263718.1:n.*162C>T | |
| NM_000577.5:c.*162C>T | NP_000568.1:n.*162C>T | |
| NM_001318914.2:c.*162C>T | NP_001305843.1:n.*162C>T | |
| NM_173842.3:c.*162C>T MANE Select | NP_776214.1:n.*162C>T | |
| NM_173843.3:c.*162C>T | NP_776215.1:n.*162C>T | |
| NM_001379360.1:c.*162C>T | NP_001366289.1:n.*162C>T | |
| NM_173841.3:c.*162C>T | NP_776213.1:n.*162C>T |