Linked Data
dbSNP Id:
rs769507720
ExAC:
11:66283091 A / G
gnomAD v2:
11-66283091-A-G
gnomAD v4:
11-66515620-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66515620A>G , CM000673.2:g.66515620A>G | GRCh38 |
| NC_000011.9:g.66283091A>G , CM000673.1:g.66283091A>G | GRCh37 |
| NC_000011.8:g.66039667A>G | NCBI36 |
| NG_009093.1:g.9973A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.479+34A>G MANE Select | ENSP00000317469.7:n.479+34A>G | |
| ENST00000318312.11:c.479+34A>G | ENSP00000317469.7:n.479+34A>G | |
| ENST00000393994.4:c.479+34A>G | ENSP00000377563.2:n.479+34A>G | |
| ENST00000419755.3:c.590+34A>G | ENSP00000398526.3:n.590+34A>G | |
| ENST00000455748.6:c.432+942A>G | ENSP00000405764.2:n.432+942A>G | |
| ENST00000524458.5:c.*140-73A>G | ENSP00000436195.1:n.*140-73A>G | |
| ENST00000524907.5:n.503A>G | ||
| ENST00000525809.5:c.206+34A>G | ENSP00000431187.1:n.206+34A>G | |
| ENST00000526035.5:c.*186+34A>G | ENSP00000434197.1:n.*186+34A>G | |
| ENST00000526760.5:c.*186+34A>G | ENSP00000432140.1:n.*186+34A>G | |
| ENST00000527251.5:c.*186+34A>G | ENSP00000434360.1:n.*186+34A>G | |
| ENST00000529766.5:n.486+34A>G | ||
| ENST00000529953.5:n.131+34A>G | ||
| ENST00000529955.5:n.451-73A>G | ||
| ENST00000532908.5:c.*140-73A>G | ENSP00000431866.1:n.*140-73A>G | |
| ENST00000533430.5:n.257+34A>G | ||
| ENST00000533557.5:c.*140-73A>G | ENSP00000434619.1:n.*140-73A>G | |
| ENST00000533644.5:c.433-73A>G | ENSP00000436073.1:n.433-73A>G | |
| ENST00000534730.5:n.491+34A>G | ||
| ENST00000630659.2:c.*186+34A>G | ENSP00000486455.1:n.*186+34A>G | |
| NM_024649.4:c.479+34A>G | NP_078925.3:n.479+34A>G | |
| NM_024649.5:c.479+34A>G MANE Select | NP_078925.3:n.479+34A>G |