Linked Data
ClinVar Variation Id:
50854
dbSNP Id:
rs143946794
ExAC:
12:89744637 T / C
gnomAD v2:
12-89744637-T-C
gnomAD v3:
12-89350860-T-C
gnomAD v4:
12-89350860-T-C
PubMed:
PMID:23643382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89350860T>C , CM000674.2:g.89350860T>C | GRCh38 |
| NC_000012.11:g.89744637T>C , CM000674.1:g.89744637T>C | GRCh37 |
| NC_000012.10:g.88268768T>C | NCBI36 |
| NG_033915.1:g.7000A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000279488.8:c.566A>G MANE Select | ENSP00000279488.6:p.Asn189Ser | |
| ENST00000279488.7:c.566A>G | ENSP00000279488.6:p.Asn189Ser | |
| ENST00000308385.6:c.400+780A>G | ENSP00000307835.6:n.400+780A>G | |
| ENST00000547140.1:n.252A>G | ||
| ENST00000547291.1:c.191A>G | ENSP00000449838.1:p.Asn64Ser | |
| NM_001946.3:c.566A>G | NP_001937.2:p.Asn189Ser | |
| NM_022652.3:c.400+780A>G | NP_073143.2:n.400+780A>G | |
| NM_001946.4:c.566A>G MANE Select | NP_001937.2:p.Asn189Ser | |
| NM_022652.4:c.400+780A>G | NP_073143.2:n.400+780A>G |