Linked Data
ClinVar Variation Id:
2971588
ClinVar RCV Id:
RCV003832650
dbSNP Id:
rs1472836871
gnomAD v3:
9-120957337-T-C
gnomAD v4:
9-120957337-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120957337T>C , CM000671.2:g.120957337T>C | GRCh38 |
| NC_000009.11:g.123719615T>C , CM000671.1:g.123719615T>C | GRCh37 |
| NC_000009.10:g.122759436T>C | NCBI36 |
| NG_007364.1:g.97940A>G , LRG_28:g.97940A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1744A>G | ||
| ENST00000696279.1:c.5030A>G | ||
| ENST00000696280.1:n.4799A>G | ||
| ENST00000696281.1:c.4728A>G | ENSP00000512521.1:p.Val1576= | |
| ENST00000697921.1:n.3588A>G | ||
| ENST00000697922.1:c.*4700A>G | ENSP00000513478.1:n.*4700A>G | |
| ENST00000697923.1:n.5155A>G | ||
| ENST00000223642.3:c.4710A>G MANE Select | ENSP00000223642.1:p.Val1570= | |
| ENST00000223642.2:c.4710A>G | ENSP00000223642.1:p.Val1570= | |
| ENST00000480188.1:n.243A>G | ||
| NM_001735.2:c.4710A>G , LRG_28t1:c.4710A>G | NP_001726.2:p.Val1570= | |
| XM_011518980.1:c.4725A>G | XP_011517282.1:p.Val1575= | |
| NM_001317163.1:c.4728A>G | NP_001304092.1:p.Val1576= | |
| NM_001317163.2:c.4728A>G | NP_001304092.1:p.Val1576= | |
| NM_001735.3:c.4710A>G MANE Select | NP_001726.2:p.Val1570= |