Linked Data
ClinVar Variation Id:
356442
ClinVar RCV Id:
RCV000305991
dbSNP Id:
rs886061328
gnomAD v3:
6-35452761-G-T
gnomAD v4:
6-35452761-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35452761G>T , CM000668.2:g.35452761G>T | GRCh38 |
| NC_000006.11:g.35420538G>T , CM000668.1:g.35420538G>T | GRCh37 |
| NC_000006.10:g.35528516G>T | NCBI36 |
| NG_011708.1:g.5401G>T , LRG_498:g.5401G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.216G>T | ENSP00000512511.1:p.Pro72= | |
| ENST00000696265.1:c.216G>T | ENSP00000512512.1:p.Pro72= | |
| ENST00000229769.3:c.216G>T MANE Select | ENSP00000229769.2:p.Pro72= | |
| ENST00000648059.1:c.216G>T | ENSP00000497902.1:p.Pro72= | |
| ENST00000229769.2:c.216G>T | ENSP00000229769.2:p.Pro72= | |
| NM_021922.2:c.216G>T , LRG_498t1:c.216G>T | NP_068741.1:p.Pro72= | |
| XM_005248885.2:c.216G>T | XP_005248942.1:p.Pro72= | |
| XM_005248886.2:c.216G>T | XP_005248943.1:p.Pro72= | |
| XM_005248887.2:c.216G>T | XP_005248944.1:p.Pro72= | |
| XM_005248888.2:c.216G>T | XP_005248945.1:p.Pro72= | |
| XM_011514344.1:c.-108G>T | XP_011512646.1:n.-108G>T | |
| XM_005248888.3:c.216G>T | XP_005248945.1:p.Pro72= | |
| XR_001743226.1:n.423G>T | ||
| XR_002956267.1:n.423G>T | ||
| NM_021922.3:c.216G>T MANE Select | NP_068741.1:p.Pro72= |