Linked Data
ClinVar Variation Id:
712194
ClinVar RCV Id:
RCV001406415
dbSNP Id:
rs776872127
ExAC:
9:130587095 A / C
gnomAD v2:
9-130587095-A-C
gnomAD v3:
9-127824816-A-C
gnomAD v4:
9-127824816-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127824816A>C , CM000671.2:g.127824816A>C | GRCh38 |
| NC_000009.11:g.130587095A>C , CM000671.1:g.130587095A>C | GRCh37 |
| NC_000009.10:g.129626916A>C | NCBI36 |
| NG_009551.1:g.34953T>G , LRG_589:g.34953T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.429T>G | ENSP00000479015.1:p.Leu143= | |
| ENST00000373203.9:c.975T>G MANE Select | ENSP00000362299.4:p.Leu325= | |
| ENST00000344849.4:c.975T>G | ENSP00000341917.3:p.Leu325= | |
| ENST00000373203.8:c.975T>G | ENSP00000362299.4:p.Leu325= | |
| ENST00000480266.5:c.429T>G | ENSP00000479015.1:p.Leu143= | |
| NM_000118.3:c.975T>G , LRG_589t1:c.975T>G | NP_000109.1:p.Leu325= | |
| NM_001114753.2:c.975T>G , LRG_589t2:c.975T>G | NP_001108225.1:p.Leu325= | |
| NM_001278138.1:c.429T>G | NP_001265067.1:p.Leu143= | |
| NM_001114753.3:c.975T>G MANE Select | NP_001108225.1:p.Leu325= | |
| NM_001278138.2:c.429T>G | NP_001265067.1:p.Leu143= |