Linked Data
ClinVar Variation Id:
293621
ClinVar RCV Id:
RCV000260117
RCV000319985
RCV000332909
RCV000373517
RCV002429244
RCV002292439
RCV003761906
RCV003930208
dbSNP Id:
rs144979314
ExAC:
1:169512106 T / C
gnomAD v2:
1-169512106-T-C
gnomAD v3:
1-169542868-T-C
gnomAD v4:
1-169542868-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169542868T>C , CM000663.2:g.169542868T>C | GRCh38 |
| NC_000001.10:g.169512106T>C , CM000663.1:g.169512106T>C | GRCh37 |
| NC_000001.9:g.167778730T>C | NCBI36 |
| NG_011806.1:g.48664A>G , LRG_553:g.48664A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.2222A>G MANE Select | ENSP00000356771.3:p.Asn741Ser | |
| ENST00000367796.3:c.2237A>G | ENSP00000356770.3:p.Asn746Ser | |
| ENST00000367797.7:c.2222A>G | ENSP00000356771.3:p.Asn741Ser | |
| NM_000130.4:c.2222A>G , LRG_553t1:c.2222A>G | NP_000121.2:p.Asn741Ser | |
| XM_017000660.2:c.1811A>G | XP_016856149.1:p.Asn604Ser | |
| NM_000130.5:c.2222A>G MANE Select | NP_000121.2:p.Asn741Ser |