Linked Data
ClinVar Variation Id:
237018
dbSNP Id:
rs41302657
ExAC:
9:130581016 C / T
gnomAD:
9:130581016 C / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127818737C>T , CM000671.2:g.127818737C>T | GRCh38 |
| NC_000009.11:g.130581016C>T , CM000671.1:g.130581016C>T | GRCh37 |
| NC_000009.10:g.129620837C>T | NCBI36 |
| NG_009551.1:g.41032G>A , LRG_589:g.41032G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373203.9:c.1407G>A MANE Select | ENSP00000362299.4:p.Pro469= | |
| ENST00000344849.4:c.1407G>A | ENSP00000341917.3:p.Pro469= | |
| ENST00000373203.8:c.1407G>A | ENSP00000362299.4:p.Pro469= | |
| ENST00000480266.5:c.861G>A | ENSP00000479015.1:p.Pro287= | |
| NM_000118.3:c.1407G>A , LRG_589t1:c.1407G>A | NP_000109.1:p.Pro469= | |
| NM_001114753.2:c.1407G>A , LRG_589t2:c.1407G>A | NP_001108225.1:p.Pro469= | |
| NM_001278138.1:c.861G>A | NP_001265067.1:p.Pro287= | |
| NR_136302.1:n.1568+26C>T | ||
| NM_001114753.3:c.1407G>A MANE Select | NP_001108225.1:p.Pro469= | |
| NM_001278138.2:c.861G>A | NP_001265067.1:p.Pro287= |