Linked Data
ClinVar Variation Id:
3071743
ClinVar RCV Id:
RCV004016237
dbSNP Id:
rs1184764743
gnomAD v4:
11-47333725-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333725T>C , CM000673.2:g.47333725T>C | GRCh38 |
| NC_000011.9:g.47355276T>C , CM000673.1:g.47355276T>C | GRCh37 |
| NC_000011.8:g.47311852T>C | NCBI36 |
| NG_007667.1:g.23978A>G , LRG_386:g.23978A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3022A>G MANE Select | ENSP00000442795.1:p.Thr1008Ala | |
| ENST00000256993.8:c.3022A>G | ENSP00000256993.5:p.Thr1008Ala | |
| ENST00000399249.6:c.3022A>G | ENSP00000382193.2:p.Thr1008Ala | |
| ENST00000545968.5:c.3022A>G | ENSP00000442795.1:p.Thr1008Ala | |
| NM_000256.3:c.3022A>G , LRG_386t1:c.3022A>G MANE Select | NP_000247.2:p.Thr1008Ala | |
| XM_011520117.1:c.3004A>G | XP_011518419.1:p.Thr1002Ala | |
| XM_011520118.1:c.2941A>G | XP_011518420.1:p.Thr981Ala |