Linked Data
ClinVar Variation Id:
336730
ClinVar RCV Id:
RCV000349781
dbSNP Id:
rs765002648
ExAC:
2:62053522 C / T
gnomAD v2:
2-62053522-C-T
gnomAD v4:
2-61826387-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61826387C>T , CM000664.2:g.61826387C>T | GRCh38 |
| NC_000002.11:g.62053522C>T , CM000664.1:g.62053522C>T | GRCh37 |
| NC_000002.10:g.61907026C>T | NCBI36 |
| NG_028125.1:g.32757G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404929.6:c.*68G>A MANE Select | ENSP00000385158.1:n.*68G>A | |
| ENST00000404929.5:c.*68G>A | ENSP00000385158.1:n.*68G>A | |
| ENST00000405894.3:c.*68G>A | ENSP00000385893.3:n.*68G>A | |
| ENST00000418113.5:c.2496G>A | ||
| ENST00000456262.5:c.*1566G>A | ENSP00000396105.1:n.*1566G>A | |
| NM_001201543.1:c.*68G>A | NP_001188472.1:n.*68G>A | |
| NM_032180.2:c.*68G>A | NP_115556.2:n.*68G>A | |
| NR_037710.1:n.2097G>A | ||
| XR_939724.1:n.3367+717G>A | ||
| XM_017005072.1:c.*68G>A | XP_016860561.1:n.*68G>A | |
| XM_017005073.1:c.*68G>A | XP_016860562.1:n.*68G>A | |
| XM_017005074.1:c.*68G>A | XP_016860563.1:n.*68G>A | |
| XR_001738972.2:n.2007+717G>A | ||
| XR_001738973.2:n.1839+717G>A | ||
| XR_001738974.2:n.2007+717G>A | ||
| XR_001738976.1:n.2035+717G>A | ||
| XR_001738977.1:n.1867+717G>A | ||
| NM_001201543.2:c.*68G>A MANE Select | NP_001188472.1:n.*68G>A | |
| NM_032180.3:c.*68G>A | NP_115556.2:n.*68G>A | |
| NR_037710.2:n.2014G>A |