Linked Data
ClinVar Variation Id:
1226144
ClinVar RCV Id:
RCV001613819
dbSNP Id:
rs4344
gnomAD v2:
17-61566724-G-A
gnomAD v3:
17-63489363-G-A
gnomAD v4:
17-63489363-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63489363G>A , CM000679.2:g.63489363G>A | GRCh38 |
| NC_000017.10:g.61566724G>A , CM000679.1:g.61566724G>A | GRCh37 |
| NC_000017.9:g.58920456G>A | NCBI36 |
| NG_011648.1:g.17291G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290866.10:c.2641+231G>A MANE Select | ENSP00000290866.4:n.2641+231G>A | |
| ENST00000290863.10:c.919+231G>A | ENSP00000290863.6:n.919+231G>A | |
| ENST00000290866.9:c.2641+231G>A | ENSP00000290866.4:n.2641+231G>A | |
| ENST00000413513.7:c.919+231G>A | ENSP00000392247.3:n.919+231G>A | |
| ENST00000428043.5:c.2641+231G>A | ENSP00000397593.2:n.2641+231G>A | |
| ENST00000577647.2:c.919+231G>A | ENSP00000464149.1:n.919+231G>A | |
| ENST00000578839.5:c.*519+572G>A | ENSP00000462110.2:n.*519+572G>A | |
| ENST00000579314.5:c.*370+231G>A | ENSP00000462599.1:n.*370+231G>A | |
| ENST00000582761.1:c.409+231G>A | ENSP00000462909.1:n.409+231G>A | |
| ENST00000584865.5:n.587+231G>A | ||
| NM_000789.3:c.2641+231G>A | NP_000780.1:n.2641+231G>A | |
| NM_001178057.1:c.919+231G>A | NP_001171528.1:n.919+231G>A | |
| NM_152830.2:c.919+231G>A | NP_690043.1:n.919+231G>A | |
| XM_005257110.1:c.2092+231G>A | XP_005257167.1:n.2092+231G>A | |
| XM_006721737.2:c.979+231G>A | XP_006721800.2:n.979+231G>A | |
| XM_006721737.3:c.979+231G>A | XP_006721800.2:n.979+231G>A | |
| NM_000789.4:c.2641+231G>A MANE Select | NP_000780.1:n.2641+231G>A | |
| NM_001178057.2:c.919+231G>A | NP_001171528.1:n.919+231G>A | |
| NM_152830.3:c.919+231G>A | NP_690043.1:n.919+231G>A | |
| NM_001382700.1:c.2074+231G>A | NP_001369629.1:n.2074+231G>A | |
| NM_001382701.1:c.1789+231G>A | NP_001369630.1:n.1789+231G>A | |
| NM_001382702.1:c.379+572G>A | NP_001369631.1:n.379+572G>A | |
| NR_168483.1:n.1019+231G>A |