Linked Data
dbSNP Id:
rs1230901749
gnomAD v2:
8-41119569-T-C
gnomAD v3:
8-41262050-T-C
gnomAD v4:
8-41262050-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41262050T>C , CM000670.2:g.41262050T>C | GRCh38 |
| NC_000008.10:g.41119569T>C , CM000670.1:g.41119569T>C | GRCh37 |
| NC_000008.9:g.41238726T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220772.8:c.*3117A>G MANE Select | ENSP00000220772.3:n.*3117A>G | |
| ENST00000220772.7:c.*3117A>G | ENSP00000220772.3:n.*3117A>G | |
| ENST00000379845.3:c.*3117A>G | ENSP00000369174.3:n.*3117A>G | |
| NM_003012.4:c.*3117A>G | NP_003003.3:n.*3117A>G | |
| NM_003012.5:c.*3117A>G MANE Select | NP_003003.3:n.*3117A>G |