Linked Data
ClinVar Variation Id:
2147796
ClinVar RCV Id:
RCV003068527
dbSNP Id:
rs148176179
ExAC:
10:69571328 G / C
gnomAD v2:
10-69571328-G-C
gnomAD v3:
10-67811570-G-C
gnomAD v4:
10-67811570-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67811570G>C , CM000672.2:g.67811570G>C | GRCh38 |
| NC_000010.10:g.69571328G>C , CM000672.1:g.69571328G>C | GRCh37 |
| NC_000010.9:g.69241334G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225171.7:c.251C>G MANE Select | ENSP00000225171.2:p.Ser84Trp | |
| ENST00000225171.6:c.251C>G | ENSP00000225171.2:p.Ser84Trp | |
| ENST00000339758.7:c.251C>G | ENSP00000343575.6:p.Ser84Trp | |
| ENST00000480180.1:c.*270C>G | ENSP00000474804.1:n.*270C>G | |
| ENST00000480963.5:c.*171C>G | ENSP00000473979.1:n.*171C>G | |
| ENST00000483798.6:c.341C>G | ENSP00000474215.1:p.Ser114Trp | |
| NM_021800.2:c.251C>G | NP_068572.1:p.Ser84Trp | |
| NM_201262.1:c.251C>G | NP_957714.1:p.Ser84Trp | |
| XM_011539967.1:c.281C>G | XP_011538269.1:p.Ser94Trp | |
| XM_017016431.1:c.5C>G | XP_016871920.1:p.Ser2Trp | |
| XM_017016432.2:c.5C>G | XP_016871921.1:p.Ser2Trp | |
| NM_021800.3:c.251C>G MANE Select | NP_068572.1:p.Ser84Trp | |
| NM_201262.2:c.251C>G | NP_957714.1:p.Ser84Trp |