Linked Data
dbSNP Id:
rs773248503
ExAC:
11:100922109 T / C
gnomAD v2:
11-100922109-T-C
gnomAD v4:
11-101051378-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101051378T>C , CM000673.2:g.101051378T>C | GRCh38 |
| NC_000011.9:g.100922109T>C , CM000673.1:g.100922109T>C | GRCh37 |
| NC_000011.8:g.100427319T>C | NCBI36 |
| NG_016475.1:g.83436A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325455.10:c.2357+46A>G MANE Select | ENSP00000325120.5:n.2357+46A>G | |
| ENST00000263463.9:c.2051+46A>G | ENSP00000263463.5:n.2051+46A>G | |
| ENST00000325455.9:c.2357+46A>G | ENSP00000325120.5:n.2357+46A>G | |
| ENST00000526300.5:c.2051+46A>G | ENSP00000436803.1:n.2051+46A>G | |
| ENST00000528960.5:c.2240+46A>G | ENSP00000432914.1:n.2240+46A>G | |
| ENST00000530764.1:n.47+46A>G | ||
| ENST00000533207.5:n.1724+46A>G | ||
| ENST00000534013.5:c.575+46A>G | ENSP00000436561.1:n.575+46A>G | |
| ENST00000534780.5:c.2357+46A>G | ENSP00000432352.1:n.2357+46A>G | |
| ENST00000617858.4:c.2051+46A>G | ENSP00000481227.1:n.2051+46A>G | |
| ENST00000619228.2:c.2240+46A>G | ENSP00000482698.1:n.2240+46A>G | |
| NM_000926.4:c.2357+46A>G MANE Select | NP_000917.3:n.2357+46A>G | |
| NM_001202474.3:c.1865+46A>G | NP_001189403.1:n.1865+46A>G | |
| NM_001271161.2:c.1559+46A>G | NP_001258090.1:n.1559+46A>G | |
| NM_001271162.1:c.575+46A>G | NP_001258091.1:n.575+46A>G | |
| NR_073141.2:n.2350+46A>G | ||
| NR_073142.2:n.2233+46A>G | ||
| NR_073143.2:n.2044+46A>G | ||
| XM_006718858.2:c.2357+46A>G | XP_006718921.1:n.2357+46A>G | |
| XM_006718858.3:c.2357+46A>G | XP_006718921.1:n.2357+46A>G | |
| NM_001271162.2:c.575+46A>G | NP_001258091.1:n.575+46A>G | |
| NR_073141.3:n.2364+46A>G | ||
| NR_073142.3:n.2247+46A>G | ||
| NR_073143.3:n.2058+46A>G |