Linked Data
ClinVar Variation Id:
407115
dbSNP Id:
rs1060501410
gnomAD v2:
9-130587079-C-T
gnomAD v4:
9-127824800-C-T
ERepo:
CA16612528/MONDO:0008535/136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127824800C>T , CM000671.2:g.127824800C>T | GRCh38 |
| NC_000009.11:g.130587079C>T , CM000671.1:g.130587079C>T | GRCh37 |
| NC_000009.10:g.129626900C>T | NCBI36 |
| NG_009551.1:g.34969G>A , LRG_589:g.34969G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.445G>A | ENSP00000479015.1:p.Gly149Ser | |
| ENST00000373203.9:c.991G>A MANE Select | ENSP00000362299.4:p.Gly331Ser | |
| ENST00000344849.4:c.991G>A | ENSP00000341917.3:p.Gly331Ser | |
| ENST00000373203.8:c.991G>A | ENSP00000362299.4:p.Gly331Ser | |
| ENST00000480266.5:c.445G>A | ENSP00000479015.1:p.Gly149Ser | |
| NM_000118.3:c.991G>A , LRG_589t1:c.991G>A | NP_000109.1:p.Gly331Ser | |
| NM_001114753.2:c.991G>A , LRG_589t2:c.991G>A | NP_001108225.1:p.Gly331Ser | |
| NM_001278138.1:c.445G>A | NP_001265067.1:p.Gly149Ser | |
| NM_001114753.3:c.991G>A MANE Select | NP_001108225.1:p.Gly331Ser | |
| NM_001278138.2:c.445G>A | NP_001265067.1:p.Gly149Ser |