Linked Data
ClinVar Variation Id:
330845
ClinVar RCV Id:
RCV000355397
dbSNP Id:
rs9005
gnomAD v2:
2-113891412-G-A
gnomAD v3:
2-113133835-G-A
gnomAD v4:
2-113133835-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113133835G>A , CM000664.2:g.113133835G>A | GRCh38 |
| NC_000002.11:g.113891412G>A , CM000664.1:g.113891412G>A | GRCh37 |
| NC_000002.10:g.113607883G>A | NCBI36 |
| NG_021240.1:g.20943G>A , LRG_188:g.20943G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409052.6:c.*822G>A | ENSP00000387210.1:n.*822G>A | |
| ENST00000696880.1:c.*501G>A | ENSP00000512948.1:n.*501G>A | |
| ENST00000409930.4:c.*964G>A MANE Select | ENSP00000387173.3:n.*964G>A | |
| ENST00000259206.9:c.*964G>A | ENSP00000259206.5:n.*964G>A | |
| ENST00000354115.6:c.*964G>A | ENSP00000329072.3:n.*964G>A | |
| ENST00000361779.7:c.*964G>A | ENSP00000354816.3:n.*964G>A | |
| ENST00000409052.5:c.*822G>A | ENSP00000387210.1:n.*822G>A | |
| NM_000577.4:c.*964G>A | NP_000568.1:n.*964G>A | |
| NM_173841.2:c.*964G>A , LRG_188t1:c.*964G>A | NP_776213.1:n.*964G>A | |
| NM_173842.2:c.*964G>A | NP_776214.1:n.*964G>A | |
| NM_173843.2:c.*964G>A | NP_776215.1:n.*964G>A | |
| XM_005263661.3:c.*964G>A | XP_005263718.1:n.*964G>A | |
| XM_006712497.2:c.*964G>A | XP_006712560.1:n.*964G>A | |
| XM_011511121.1:c.*964G>A | XP_011509423.1:n.*964G>A | |
| NM_001318914.1:c.*964G>A | NP_001305843.1:n.*964G>A | |
| XM_005263661.4:c.*964G>A | XP_005263718.1:n.*964G>A | |
| NM_000577.5:c.*964G>A | NP_000568.1:n.*964G>A | |
| NM_001318914.2:c.*964G>A | NP_001305843.1:n.*964G>A | |
| NM_173842.3:c.*964G>A MANE Select | NP_776214.1:n.*964G>A | |
| NM_173843.3:c.*964G>A | NP_776215.1:n.*964G>A | |
| NM_001379360.1:c.*964G>A | NP_001366289.1:n.*964G>A | |
| NM_173841.3:c.*964G>A | NP_776213.1:n.*964G>A |