Linked Data
dbSNP Id:
rs745922957
ExAC:
11:47358998 A / G
gnomAD v2:
11-47358998-A-G
gnomAD v4:
11-47337447-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337447A>G , CM000673.2:g.47337447A>G | GRCh38 |
| NC_000011.9:g.47358998A>G , CM000673.1:g.47358998A>G | GRCh37 |
| NC_000011.8:g.47315574A>G | NCBI36 |
| NG_007667.1:g.20256T>C , LRG_386:g.20256T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2546T>C MANE Select | ENSP00000442795.1:p.Val849Ala | |
| ENST00000256993.8:c.2546T>C | ENSP00000256993.5:p.Val849Ala | |
| ENST00000399249.6:c.2546T>C | ENSP00000382193.2:p.Val849Ala | |
| ENST00000544791.1:c.*51T>C | ENSP00000444259.1:n.*51T>C | |
| ENST00000545968.5:c.2546T>C | ENSP00000442795.1:p.Val849Ala | |
| NM_000256.3:c.2546T>C , LRG_386t1:c.2546T>C MANE Select | NP_000247.2:p.Val849Ala | |
| XM_011520117.1:c.2528T>C | XP_011518419.1:p.Val843Ala | |
| XM_011520118.1:c.2465T>C | XP_011518420.1:p.Val822Ala |