Linked Data
ClinVar Variation Id:
263080
dbSNP Id:
rs200654171
ExAC:
2:26702166 T / C
gnomAD v2:
2-26702166-T-C
gnomAD v3:
2-26479298-T-C
gnomAD v4:
2-26479298-T-C
COSMIC:
COSM5750108
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26479298T>C , CM000664.2:g.26479298T>C | GRCh38 |
| NC_000002.11:g.26702166T>C , CM000664.1:g.26702166T>C | GRCh37 |
| NC_000002.10:g.26555670T>C | NCBI36 |
| NG_009937.1:g.84401A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.2180A>G MANE Select | ENSP00000272371.2:p.Asn727Ser | |
| ENST00000272371.6:c.2180A>G | ENSP00000272371.2:p.Asn727Ser | |
| ENST00000403946.7:c.2180A>G | ENSP00000385255.3:p.Asn727Ser | |
| NM_001287489.1:c.2180A>G | NP_001274418.1:p.Asn727Ser | |
| NM_194248.2:c.2180A>G | NP_919224.1:p.Asn727Ser | |
| XM_005264644.2:c.2225A>G | XP_005264701.1:p.Asn742Ser | |
| XM_011533185.1:c.2225A>G | XP_011531487.1:p.Asn742Ser | |
| XM_017005338.1:c.2180A>G | XP_016860827.1:p.Asn727Ser | |
| NM_001287489.2:c.2180A>G | NP_001274418.1:p.Asn727Ser | |
| NM_194248.3:c.2180A>G MANE Select | NP_919224.1:p.Asn727Ser |