Linked Data
dbSNP Id:
rs747912257
ExAC:
11:47359315 A / C
gnomAD v2:
11-47359315-A-C
gnomAD v3:
11-47337764-A-C
gnomAD v4:
11-47337764-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337764A>C , CM000673.2:g.47337764A>C | GRCh38 |
| NC_000011.9:g.47359315A>C , CM000673.1:g.47359315A>C | GRCh37 |
| NC_000011.8:g.47315891A>C | NCBI36 |
| NG_007667.1:g.19939T>G , LRG_386:g.19939T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2339T>G MANE Select | ENSP00000442795.1:p.Ile780Ser | |
| ENST00000256993.8:c.2339T>G | ENSP00000256993.5:p.Ile780Ser | |
| ENST00000399249.6:c.2339T>G | ENSP00000382193.2:p.Ile780Ser | |
| ENST00000544791.1:c.2339T>G | ENSP00000444259.1:p.Ile780Ser | |
| ENST00000545968.5:c.2339T>G | ENSP00000442795.1:p.Ile780Ser | |
| NM_000256.3:c.2339T>G , LRG_386t1:c.2339T>G MANE Select | NP_000247.2:p.Ile780Ser | |
| XM_011520117.1:c.2321T>G | XP_011518419.1:p.Ile774Ser | |
| XM_011520118.1:c.2258T>G | XP_011518420.1:p.Ile753Ser |