Linked Data
dbSNP Id:
rs771283874
ExAC:
2:207009583 T / C
gnomAD v2:
2-207009583-T-C
gnomAD v4:
2-206144859-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206144859T>C , CM000664.2:g.206144859T>C | GRCh38 |
| NC_000002.11:g.207009583T>C , CM000664.1:g.207009583T>C | GRCh37 |
| NC_000002.10:g.206717828T>C | NCBI36 |
| NG_009248.1:g.19605A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.872+33A>G MANE Select | ENSP00000233190.5:n.872+33A>G | |
| ENST00000233190.10:c.872+33A>G | ENSP00000233190.5:n.872+33A>G | |
| ENST00000423725.5:c.701+33A>G | ENSP00000397760.1:n.701+33A>G | |
| ENST00000432169.5:c.539+33A>G | ENSP00000409689.1:n.539+33A>G | |
| ENST00000440274.5:c.764+33A>G | ENSP00000409766.1:n.764+33A>G | |
| ENST00000449699.5:c.872+33A>G | ENSP00000399912.1:n.872+33A>G | |
| ENST00000455934.6:c.914+33A>G | ENSP00000392709.2:n.914+33A>G | |
| ENST00000457011.5:c.524+33A>G | ENSP00000400976.1:n.524+33A>G | |
| NM_001199981.1:c.764+33A>G | NP_001186910.1:n.764+33A>G | |
| NM_001199982.1:c.539+33A>G | NP_001186911.1:n.539+33A>G | |
| NM_001199983.1:c.701+33A>G | NP_001186912.1:n.701+33A>G | |
| NM_001199984.1:c.914+33A>G | NP_001186913.1:n.914+33A>G | |
| NM_005006.6:c.872+33A>G | NP_004997.4:n.872+33A>G | |
| XM_017004188.2:c.113+33A>G | XP_016859677.1:n.113+33A>G | |
| NM_001199981.2:c.764+33A>G | NP_001186910.1:n.764+33A>G | |
| NM_001199982.2:c.539+33A>G | NP_001186911.1:n.539+33A>G | |
| NM_001199983.2:c.701+33A>G | NP_001186912.1:n.701+33A>G | |
| NM_005006.7:c.872+33A>G MANE Select | NP_004997.4:n.872+33A>G | |
| NM_001199984.2:c.914+33A>G | NP_001186913.1:n.914+33A>G |