Linked Data
ClinVar Variation Id:
2906019
ClinVar RCV Id:
RCV003760410
dbSNP Id:
rs774869479
ExAC:
9:130581022 G / A
gnomAD v2:
9-130581022-G-A
gnomAD v4:
9-127818743-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127818743G>A , CM000671.2:g.127818743G>A | GRCh38 |
| NC_000009.11:g.130581022G>A , CM000671.1:g.130581022G>A | GRCh37 |
| NC_000009.10:g.129620843G>A | NCBI36 |
| NG_009551.1:g.41026C>T , LRG_589:g.41026C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.855C>T | ENSP00000479015.1:p.Ile285= | |
| ENST00000373203.9:c.1401C>T MANE Select | ENSP00000362299.4:p.Ile467= | |
| ENST00000344849.4:c.1401C>T | ENSP00000341917.3:p.Ile467= | |
| ENST00000373203.8:c.1401C>T | ENSP00000362299.4:p.Ile467= | |
| ENST00000480266.5:c.855C>T | ENSP00000479015.1:p.Ile285= | |
| NM_000118.3:c.1401C>T , LRG_589t1:c.1401C>T | NP_000109.1:p.Ile467= | |
| NM_001114753.2:c.1401C>T , LRG_589t2:c.1401C>T | NP_001108225.1:p.Ile467= | |
| NM_001278138.1:c.855C>T | NP_001265067.1:p.Ile285= | |
| NR_136302.1:n.1568+32G>A | ||
| NM_001114753.3:c.1401C>T MANE Select | NP_001108225.1:p.Ile467= | |
| NM_001278138.2:c.855C>T | NP_001265067.1:p.Ile285= |