Linked Data
ClinVar Variation Id:
336739
dbSNP Id:
rs149314387
ExAC:
2:62067126 C / T
gnomAD v2:
2-62067126-C-T
gnomAD v3:
2-61839991-C-T
gnomAD v4:
2-61839991-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61839991C>T , CM000664.2:g.61839991C>T | GRCh38 |
| NC_000002.11:g.62067126C>T , CM000664.1:g.62067126C>T | GRCh37 |
| NC_000002.10:g.61920630C>T | NCBI36 |
| NG_028125.1:g.19153G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404929.6:c.1013G>A MANE Select | ENSP00000385158.1:p.Arg338Gln | |
| ENST00000307507.3:c.*1023G>A | ENSP00000303170.3:n.*1023G>A | |
| ENST00000404929.5:c.1013G>A | ENSP00000385158.1:p.Arg338Gln | |
| ENST00000405894.3:c.1013G>A | ENSP00000385893.3:p.Arg338Gln | |
| ENST00000418113.5:c.1000G>A | ||
| ENST00000456262.5:c.*528G>A | ENSP00000396105.1:n.*528G>A | |
| NM_001201543.1:c.1013G>A | NP_001188472.1:p.Arg338Gln | |
| NM_032180.2:c.1013G>A | NP_115556.2:p.Arg338Gln | |
| NR_037710.1:n.1059G>A | ||
| XR_939724.1:n.2374G>A | ||
| XM_017005072.1:c.686G>A | XP_016860561.1:p.Arg229Gln | |
| XM_017005073.1:c.443G>A | XP_016860562.1:p.Arg148Gln | |
| XM_017005074.1:c.443G>A | XP_016860563.1:p.Arg148Gln | |
| XR_001738972.2:n.1014G>A | ||
| XR_001738973.2:n.1014G>A | ||
| XR_001738974.2:n.1014G>A | ||
| XR_001738975.2:n.1014G>A | ||
| XR_001738976.1:n.1042G>A | ||
| XR_001738977.1:n.1042G>A | ||
| NM_001201543.2:c.1013G>A MANE Select | NP_001188472.1:p.Arg338Gln | |
| NM_032180.3:c.1013G>A | NP_115556.2:p.Arg338Gln | |
| NR_037710.2:n.976G>A |