Linked Data
ClinVar Variation Id:
714238
ClinVar RCV Id:
RCV000886515
dbSNP Id:
rs141679322
ExAC:
4:1816281 T / C
gnomAD v2:
4-1816281-T-C
gnomAD v3:
4-1814554-T-C
gnomAD v4:
4-1814554-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1814554T>C , CM000666.2:g.1814554T>C | GRCh38 |
| NC_000004.11:g.1816281T>C , CM000666.1:g.1816281T>C | GRCh37 |
| NC_000004.10:g.1786079T>C | NCBI36 |
| NG_013063.1:g.46694A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.2090A>G MANE Select | ENSP00000305653.2:p.Lys697Arg | |
| ENST00000302787.2:c.2090A>G | ENSP00000305653.2:p.Lys697Arg | |
| NM_012318.2:c.2090A>G | NP_036450.1:p.Lys697Arg | |
| XM_005247970.3:c.1175A>G | XP_005248027.1:p.Lys392Arg | |
| XM_006713884.1:c.2087A>G | XP_006713947.1:p.Lys696Arg | |
| NM_012318.3:c.2090A>G MANE Select | NP_036450.1:p.Lys697Arg |