Linked Data
ClinVar Variation Id:
1521364
ClinVar RCV Id:
RCV002027860
dbSNP Id:
rs778808864
ExAC:
9:131708313 T / C
gnomAD v2:
9-131708313-T-C
gnomAD v4:
9-128946034-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128946034T>C , CM000671.2:g.128946034T>C | GRCh38 |
| NC_000009.11:g.131708313T>C , CM000671.1:g.131708313T>C | GRCh37 |
| NC_000009.10:g.130748134T>C | NCBI36 |
| NG_017009.1:g.6700A>G , LRG_744:g.6700A>G | |
| NG_033111.1:g.3342T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1270A>G MANE Select | ENSP00000361667.3:p.Arg424Gly | |
| ENST00000372586.3:c.1270A>G | ENSP00000361667.3:p.Arg424Gly | |
| ENST00000482796.1:c.39-3155T>C | ENSP00000417556.2:n.39-3155T>C | |
| NM_014908.3:c.1270A>G , LRG_744t1:c.1270A>G | NP_055723.1:p.Arg424Gly | |
| NM_014908.4:c.1270A>G MANE Select | NP_055723.1:p.Arg424Gly |