Linked Data
ClinVar Variation Id:
193466
dbSNP Id:
rs4270331
ExAC:
2:62081012 A / C
gnomAD v2:
2-62081012-A-C
gnomAD v3:
2-61853877-A-C
gnomAD v4:
2-61853877-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61853877A>C , CM000664.2:g.61853877A>C | GRCh38 |
| NC_000002.11:g.62081012A>C , CM000664.1:g.62081012A>C | GRCh37 |
| NC_000002.10:g.61934516A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404929.6:c.165T>G MANE Select | ENSP00000385158.1:p.Ala55= | |
| ENST00000307507.3:c.165T>G | ENSP00000303170.3:p.Ala55= | |
| ENST00000404929.5:c.165T>G | ENSP00000385158.1:p.Ala55= | |
| ENST00000405894.3:c.165T>G | ENSP00000385893.3:p.Ala55= | |
| ENST00000418113.5:c.152T>G | ||
| ENST00000456262.5:c.165T>G | ENSP00000396105.1:p.Ala55= | |
| XR_939724.1:n.1526T>G | ||
| XM_017005073.1:c.-350T>G | XP_016860562.1:n.-350T>G | |
| XR_001738972.2:n.166T>G | ||
| XR_001738973.2:n.166T>G | ||
| XR_001738974.2:n.166T>G | ||
| XR_001738975.2:n.166T>G | ||
| XR_001738976.1:n.250T>G | ||
| XR_001738977.1:n.250T>G | ||
| NM_001201543.2:c.165T>G MANE Select | NP_001188472.1:p.Ala55= | |
| NM_032180.3:c.165T>G | NP_115556.2:p.Ala55= | |
| NR_037710.2:n.184T>G |