Linked Data
ClinVar Variation Id:
204887
dbSNP Id:
rs529607288
ExAC:
1:160099144 A / G
gnomAD v2:
1-160099144-A-G
gnomAD v3:
1-160129354-A-G
gnomAD v4:
1-160129354-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160129354A>G , CM000663.2:g.160129354A>G | GRCh38 |
| NC_000001.10:g.160099144A>G , CM000663.1:g.160099144A>G | GRCh37 |
| NC_000001.9:g.158365768A>G | NCBI36 |
| NG_008014.1:g.18597A>G , LRG_6:g.18597A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361216.8:c.1415A>G MANE Select | ENSP00000354490.3:p.Asn472Ser | |
| ENST00000361216.7:c.1415A>G | ENSP00000354490.3:p.Asn472Ser | |
| ENST00000392233.7:c.1415A>G | ENSP00000376066.3:p.Asn472Ser | |
| ENST00000447527.1:c.547A>G | ||
| ENST00000472488.5:n.1518A>G | ||
| NM_000702.3:c.1415A>G | NP_000693.1:p.Asn472Ser | |
| NM_000702.4:c.1415A>G MANE Select | NP_000693.1:p.Asn472Ser |