Linked Data
dbSNP Id:
rs752946282
ExAC:
2:207009703 A / G
gnomAD v2:
2-207009703-A-G
gnomAD v4:
2-206144979-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206144979A>G , CM000664.2:g.206144979A>G | GRCh38 |
| NC_000002.11:g.207009703A>G , CM000664.1:g.207009703A>G | GRCh37 |
| NC_000002.10:g.206717948A>G | NCBI36 |
| NG_009248.1:g.19485T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.785T>C MANE Select | ENSP00000233190.5:p.Val262Ala | |
| ENST00000233190.10:c.785T>C | ENSP00000233190.5:p.Val262Ala | |
| ENST00000423725.5:c.614T>C | ENSP00000397760.1:p.Val205Ala | |
| ENST00000432169.5:c.452T>C | ENSP00000409689.1:p.Val151Ala | |
| ENST00000440274.5:c.677T>C | ENSP00000409766.1:p.Val226Ala | |
| ENST00000449699.5:c.785T>C | ENSP00000399912.1:p.Val262Ala | |
| ENST00000455934.6:c.827T>C | ENSP00000392709.2:p.Val276Ala | |
| ENST00000457011.5:c.437T>C | ENSP00000400976.1:p.Val146Ala | |
| NM_001199981.1:c.677T>C | NP_001186910.1:p.Val226Ala | |
| NM_001199982.1:c.452T>C | NP_001186911.1:p.Val151Ala | |
| NM_001199983.1:c.614T>C | NP_001186912.1:p.Val205Ala | |
| NM_001199984.1:c.827T>C | NP_001186913.1:p.Val276Ala | |
| NM_005006.6:c.785T>C | NP_004997.4:p.Val262Ala | |
| XM_017004188.2:c.26T>C | XP_016859677.1:p.Val9Ala | |
| NM_001199981.2:c.677T>C | NP_001186910.1:p.Val226Ala | |
| NM_001199982.2:c.452T>C | NP_001186911.1:p.Val151Ala | |
| NM_001199983.2:c.614T>C | NP_001186912.1:p.Val205Ala | |
| NM_005006.7:c.785T>C MANE Select | NP_004997.4:p.Val262Ala | |
| NM_001199984.2:c.827T>C | NP_001186913.1:p.Val276Ala |