Linked Data
dbSNP Id:
rs764791605
ExAC:
2:211473062 A / G
gnomAD v2:
2-211473062-A-G
gnomAD v4:
2-210608338-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210608338A>G , CM000664.2:g.210608338A>G | GRCh38 |
| NC_000002.11:g.211473062A>G , CM000664.1:g.211473062A>G | GRCh37 |
| NC_000002.10:g.211181307A>G | NCBI36 |
| NG_008285.1:g.135654A>G , LRG_336:g.135654A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233072.10:c.2193-23A>G MANE Select | ENSP00000233072.5:n.2193-23A>G | |
| ENST00000430249.7:c.2211-23A>G | ENSP00000402608.2:n.2211-23A>G | |
| ENST00000451903.3:c.840-23A>G | ENSP00000406136.2:n.840-23A>G | |
| ENST00000673510.1:c.2193-23A>G | ENSP00000500537.1:n.2193-23A>G | |
| ENST00000673630.1:c.2193-23A>G | ENSP00000501073.1:n.2193-23A>G | |
| ENST00000673698.1:c.673-23A>G | ||
| ENST00000673711.1:c.2193-23A>G | ENSP00000501022.1:n.2193-23A>G | |
| ENST00000674074.1:n.1338-23A>G | ||
| ENST00000233072.9:c.2193-23A>G | ENSP00000233072.5:n.2193-23A>G | |
| ENST00000430249.6:c.2211-23A>G | ENSP00000402608.2:n.2211-23A>G | |
| ENST00000451903.2:c.840-23A>G | ENSP00000406136.2:n.840-23A>G | |
| NM_001122633.2:c.2211-23A>G | NP_001116105.1:n.2211-23A>G | |
| NM_001122634.3:c.840-23A>G | NP_001116106.1:n.840-23A>G | |
| NM_001875.4:c.2193-23A>G , LRG_336t1:c.2193-23A>G | NP_001866.2:n.2193-23A>G | |
| XM_011510640.1:c.2226-23A>G | XP_011508942.1:n.2226-23A>G | |
| XM_011510641.1:c.2193-23A>G | XP_011508943.1:n.2193-23A>G | |
| XM_011510642.1:c.2193-23A>G | XP_011508944.1:n.2193-23A>G | |
| XM_011510643.1:c.2193-23A>G | XP_011508945.1:n.2193-23A>G | |
| XM_011510644.1:c.2193-23A>G | XP_011508946.1:n.2193-23A>G | |
| NM_001122633.3:c.2193-23A>G | NP_001116105.2:n.2193-23A>G | |
| NM_001369256.1:c.2226-23A>G | NP_001356185.1:n.2226-23A>G | |
| NM_001369257.1:c.2193-23A>G | NP_001356186.1:n.2193-23A>G | |
| NM_001875.5:c.2193-23A>G MANE Select | NP_001866.2:n.2193-23A>G | |
| NR_161225.1:n.3102-23A>G | ||
| NR_163592.1:n.1349-23A>G |