Linked Data
ClinVar Variation Id:
1528514
ClinVar RCV Id:
RCV002071300
dbSNP Id:
rs1236405276
gnomAD v2:
2-207009708-A-G
gnomAD v3:
2-206144984-A-G
gnomAD v4:
2-206144984-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206144984A>G , CM000664.2:g.206144984A>G | GRCh38 |
| NC_000002.11:g.207009708A>G , CM000664.1:g.207009708A>G | GRCh37 |
| NC_000002.10:g.206717953A>G | NCBI36 |
| NG_009248.1:g.19480T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.780T>C MANE Select | ENSP00000233190.5:p.Asn260= | |
| ENST00000233190.10:c.780T>C | ENSP00000233190.5:p.Asn260= | |
| ENST00000423725.5:c.609T>C | ENSP00000397760.1:p.Asn203= | |
| ENST00000432169.5:c.447T>C | ENSP00000409689.1:p.Asn149= | |
| ENST00000440274.5:c.672T>C | ENSP00000409766.1:p.Asn224= | |
| ENST00000449699.5:c.780T>C | ENSP00000399912.1:p.Asn260= | |
| ENST00000455934.6:c.822T>C | ENSP00000392709.2:p.Asn274= | |
| ENST00000457011.5:c.432T>C | ENSP00000400976.1:p.Asn144= | |
| NM_001199981.1:c.672T>C | NP_001186910.1:p.Asn224= | |
| NM_001199982.1:c.447T>C | NP_001186911.1:p.Asn149= | |
| NM_001199983.1:c.609T>C | NP_001186912.1:p.Asn203= | |
| NM_001199984.1:c.822T>C | NP_001186913.1:p.Asn274= | |
| NM_005006.6:c.780T>C | NP_004997.4:p.Asn260= | |
| XM_017004188.2:c.21T>C | XP_016859677.1:p.Asn7= | |
| NM_001199981.2:c.672T>C | NP_001186910.1:p.Asn224= | |
| NM_001199982.2:c.447T>C | NP_001186911.1:p.Asn149= | |
| NM_001199983.2:c.609T>C | NP_001186912.1:p.Asn203= | |
| NM_005006.7:c.780T>C MANE Select | NP_004997.4:p.Asn260= | |
| NM_001199984.2:c.822T>C | NP_001186913.1:p.Asn274= |