Linked Data
dbSNP Id:
rs189979006
gnomAD v2:
2-43721618-C-T
gnomAD v3:
2-43494479-C-T
gnomAD v4:
2-43494479-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43494479C>T , CM000664.2:g.43494479C>T | GRCh38 |
| NC_000002.11:g.43721618C>T , CM000664.1:g.43721618C>T | GRCh37 |
| NC_000002.10:g.43575122C>T | NCBI36 |
| NG_051580.1:g.106568G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405975.7:c.3744+4354G>A MANE Select | ENSP00000386088.2:n.3744+4354G>A | |
| ENST00000398653.5:c.*2842+4354G>A | ENSP00000381647.1:n.*2842+4354G>A | |
| ENST00000402796.5:c.2282+4354G>A | ENSP00000385003.1:n.2282+4354G>A | |
| ENST00000405006.8:c.3744+4354G>A | ENSP00000385995.4:n.3744+4354G>A | |
| ENST00000405975.6:c.3744+4354G>A | ENSP00000386088.2:n.3744+4354G>A | |
| ENST00000407351.5:c.1685+4354G>A | ||
| ENST00000408045.7:c.*2839+4354G>A | ENSP00000384172.2:n.*2839+4354G>A | |
| ENST00000436947.1:n.343+4354G>A | ||
| NM_001083953.1:c.3744+4354G>A | NP_001077422.1:n.3744+4354G>A | |
| NM_022065.4:c.3744+4354G>A | NP_071348.3:n.3744+4354G>A | |
| NR_073394.1:n.3876+4354G>A | ||
| XM_006712061.2:c.3744+4354G>A | XP_006712124.1:n.3744+4354G>A | |
| XM_006712062.1:c.3741+4354G>A | XP_006712125.1:n.3741+4354G>A | |
| XM_006712063.1:c.3624+4354G>A | XP_006712126.1:n.3624+4354G>A | |
| XM_006712064.1:c.3744+4354G>A | XP_006712127.1:n.3744+4354G>A | |
| XM_006712065.1:c.3744+4354G>A | XP_006712128.1:n.3744+4354G>A | |
| XM_006712066.1:c.3381+4354G>A | XP_006712129.1:n.3381+4354G>A | |
| XM_006712067.1:c.3378+4354G>A | XP_006712130.1:n.3378+4354G>A | |
| XM_006712068.2:c.3744+4354G>A | XP_006712131.1:n.3744+4354G>A | |
| XM_006712069.2:c.1293+4354G>A | XP_006712132.1:n.1293+4354G>A | |
| XM_011533015.1:c.3744+4354G>A | XP_011531317.1:n.3744+4354G>A | |
| XM_011533016.1:c.1056+4354G>A | XP_011531318.1:n.1056+4354G>A | |
| NM_001345923.1:c.3741+4354G>A | NP_001332852.1:n.3741+4354G>A | |
| NM_001345924.1:c.3621+4354G>A | NP_001332853.1:n.3621+4354G>A | |
| NM_001345925.1:c.3744+4354G>A | NP_001332854.1:n.3744+4354G>A | |
| NR_144316.1:n.3884+4354G>A | ||
| XM_006712064.2:c.3744+4354G>A | XP_006712127.1:n.3744+4354G>A | |
| XM_006712068.3:c.3744+4354G>A | XP_006712131.1:n.3744+4354G>A | |
| XM_006712069.3:c.1293+4354G>A | XP_006712132.1:n.1293+4354G>A | |
| XM_011533015.3:c.3744+4354G>A | XP_011531317.1:n.3744+4354G>A | |
| XM_017004675.1:c.1056+4354G>A | XP_016860164.1:n.1056+4354G>A | |
| NM_001083953.2:c.3744+4354G>A | NP_001077422.1:n.3744+4354G>A | |
| NM_001345923.2:c.3741+4354G>A | NP_001332852.1:n.3741+4354G>A | |
| NM_001345924.2:c.3621+4354G>A | NP_001332853.1:n.3621+4354G>A | |
| NM_001345925.2:c.3744+4354G>A | NP_001332854.1:n.3744+4354G>A | |
| NM_022065.5:c.3744+4354G>A MANE Select | NP_071348.3:n.3744+4354G>A | |
| NR_073394.2:n.3868+4354G>A | ||
| NR_144316.2:n.3876+4354G>A |