Linked Data
ClinVar Variation Id:
626278
ClinVar RCV Id:
RCV000768439
dbSNP Id:
rs1485032272
gnomAD v3:
2-206144919-T-C
gnomAD v4:
2-206144919-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206144919T>C , CM000664.2:g.206144919T>C | GRCh38 |
| NC_000002.11:g.207009643T>C , CM000664.1:g.207009643T>C | GRCh37 |
| NC_000002.10:g.206717888T>C | NCBI36 |
| NG_009248.1:g.19545A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.845A>G MANE Select | ENSP00000233190.5:p.Asn282Ser | |
| ENST00000233190.10:c.845A>G | ENSP00000233190.5:p.Asn282Ser | |
| ENST00000423725.5:c.674A>G | ENSP00000397760.1:p.Asn225Ser | |
| ENST00000432169.5:c.512A>G | ENSP00000409689.1:p.Asn171Ser | |
| ENST00000440274.5:c.737A>G | ENSP00000409766.1:p.Asn246Ser | |
| ENST00000449699.5:c.845A>G | ENSP00000399912.1:p.Asn282Ser | |
| ENST00000455934.6:c.887A>G | ENSP00000392709.2:p.Asn296Ser | |
| ENST00000457011.5:c.497A>G | ENSP00000400976.1:p.Asn166Ser | |
| NM_001199981.1:c.737A>G | NP_001186910.1:p.Asn246Ser | |
| NM_001199982.1:c.512A>G | NP_001186911.1:p.Asn171Ser | |
| NM_001199983.1:c.674A>G | NP_001186912.1:p.Asn225Ser | |
| NM_001199984.1:c.887A>G | NP_001186913.1:p.Asn296Ser | |
| NM_005006.6:c.845A>G | NP_004997.4:p.Asn282Ser | |
| XM_017004188.2:c.86A>G | XP_016859677.1:p.Asn29Ser | |
| NM_001199981.2:c.737A>G | NP_001186910.1:p.Asn246Ser | |
| NM_001199982.2:c.512A>G | NP_001186911.1:p.Asn171Ser | |
| NM_001199983.2:c.674A>G | NP_001186912.1:p.Asn225Ser | |
| NM_005006.7:c.845A>G MANE Select | NP_004997.4:p.Asn282Ser | |
| NM_001199984.2:c.887A>G | NP_001186913.1:p.Asn296Ser |