Linked Data
ClinVar Variation Id:
464411
dbSNP Id:
rs750897570
gnomAD v3:
12-32850777-T-G
gnomAD v4:
12-32850777-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32850777T>G , CM000674.2:g.32850777T>G | GRCh38 |
| NC_000012.11:g.33003711T>G , CM000674.1:g.33003711T>G | GRCh37 |
| NC_000012.10:g.32894978T>G | NCBI36 |
| NG_009000.1:g.51070A>C , LRG_398:g.51070A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.1367A>C | ENSP00000515065.2:p.Lys456Thr | |
| ENST00000700563.2:c.1367A>C | ENSP00000515066.2:p.Lys456Thr | |
| ENST00000700559.1:c.582A>C | ||
| ENST00000700560.1:n.582A>C | ||
| ENST00000700561.1:n.708A>C | ||
| ENST00000700563.1:c.1321A>C | ||
| ENST00000700564.1:n.1371A>C | ||
| ENST00000700565.1:n.1220A>C | ||
| ENST00000070846.11:c.1367A>C | ENSP00000070846.6:p.Lys456Thr | |
| ENST00000340811.9:c.1367A>C MANE Select | ENSP00000342800.5:p.Lys456Thr | |
| ENST00000070846.10:c.1367A>C | ENSP00000070846.6:p.Lys456Thr | |
| ENST00000340811.8:c.1367A>C | ENSP00000342800.4:p.Lys456Thr | |
| ENST00000613243.1:c.1367A>C | ENSP00000478295.1:p.Lys456Thr | |
| NM_001005242.2:c.1367A>C | NP_001005242.2:p.Lys456Thr | |
| NM_004572.3:c.1367A>C , LRG_398t1:c.1367A>C | NP_004563.2:p.Lys456Thr | |
| NM_001005242.3:c.1367A>C MANE Select | NP_001005242.2:p.Lys456Thr | |
| NM_004572.4:c.1367A>C | NP_004563.2:p.Lys456Thr |