Linked Data
ClinVar Variation Id:
241441
dbSNP Id:
rs201215734
ExAC:
11:22646892 T / A
gnomAD v2:
11-22646892-T-A
gnomAD v3:
11-22625346-T-A
gnomAD v4:
11-22625346-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625346T>A , CM000673.2:g.22625346T>A | GRCh38 |
| NC_000011.9:g.22646892T>A , CM000673.1:g.22646892T>A | GRCh37 |
| NC_000011.8:g.22603468T>A | NCBI36 |
| NG_007425.1:g.5496A>T , LRG_527:g.5496A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.465A>T MANE Select | ENSP00000330875.3:p.Pro155= | |
| ENST00000327470.4:c.465A>T | ENSP00000330875.3:p.Pro155= | |
| NM_022725.3:c.465A>T , LRG_527t1:c.465A>T | NP_073562.1:p.Pro155= | |
| NM_022725.4:c.465A>T MANE Select | NP_073562.1:p.Pro155= |