Linked Data
ClinVar Variation Id:
42699
dbSNP Id:
rs367927327
ExAC:
11:47354790 C / G
gnomAD v2:
11-47354790-C-G
gnomAD v4:
11-47333239-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333239C>G , CM000673.2:g.47333239C>G | GRCh38 |
| NC_000011.9:g.47354790C>G , CM000673.1:g.47354790C>G | GRCh37 |
| NC_000011.8:g.47311366C>G | NCBI36 |
| NG_007667.1:g.24464G>C , LRG_386:g.24464G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3285G>C MANE Select | ENSP00000442795.1:p.Thr1095= | |
| ENST00000256993.8:c.3285G>C | ENSP00000256993.5:p.Thr1095= | |
| ENST00000399249.6:c.3285G>C | ENSP00000382193.2:p.Thr1095= | |
| ENST00000545968.5:c.3285G>C | ENSP00000442795.1:p.Thr1095= | |
| NM_000256.3:c.3285G>C , LRG_386t1:c.3285G>C MANE Select | NP_000247.2:p.Thr1095= | |
| XM_011520117.1:c.3267G>C | XP_011518419.1:p.Thr1089= | |
| XM_011520118.1:c.3204G>C | XP_011518420.1:p.Thr1068= |