Linked Data
ClinVar Variation Id:
138474
dbSNP Id:
rs192949406
ExAC:
2:207012392 T / C
gnomAD v2:
2-207012392-T-C
gnomAD v3:
2-206147668-T-C
gnomAD v4:
2-206147668-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206147668T>C , CM000664.2:g.206147668T>C | GRCh38 |
| NC_000002.11:g.207012392T>C , CM000664.1:g.207012392T>C | GRCh37 |
| NC_000002.10:g.206720637T>C | NCBI36 |
| NG_009248.1:g.16796A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.421-7A>G MANE Select | ENSP00000233190.5:n.421-7A>G | |
| ENST00000233190.10:c.421-7A>G | ENSP00000233190.5:n.421-7A>G | |
| ENST00000423725.5:c.250-7A>G | ENSP00000397760.1:n.250-7A>G | |
| ENST00000432169.5:c.88-7A>G | ENSP00000409689.1:n.88-7A>G | |
| ENST00000440274.5:c.313-7A>G | ENSP00000409766.1:n.313-7A>G | |
| ENST00000449699.5:c.421-7A>G | ENSP00000399912.1:n.421-7A>G | |
| ENST00000455934.6:c.463-7A>G | ENSP00000392709.2:n.463-7A>G | |
| ENST00000456284.5:c.*183-7A>G | ENSP00000395553.1:n.*183-7A>G | |
| ENST00000457011.5:c.73-7A>G | ENSP00000400976.1:n.73-7A>G | |
| NM_001199981.1:c.313-7A>G | NP_001186910.1:n.313-7A>G | |
| NM_001199982.1:c.88-7A>G | NP_001186911.1:n.88-7A>G | |
| NM_001199983.1:c.250-7A>G | NP_001186912.1:n.250-7A>G | |
| NM_001199984.1:c.463-7A>G | NP_001186913.1:n.463-7A>G | |
| NM_005006.6:c.421-7A>G | NP_004997.4:n.421-7A>G | |
| XM_017004188.2:c.-370-7A>G | XP_016859677.1:n.-370-7A>G | |
| NM_001199981.2:c.313-7A>G | NP_001186910.1:n.313-7A>G | |
| NM_001199982.2:c.88-7A>G | NP_001186911.1:n.88-7A>G | |
| NM_001199983.2:c.250-7A>G | NP_001186912.1:n.250-7A>G | |
| NM_005006.7:c.421-7A>G MANE Select | NP_004997.4:n.421-7A>G | |
| NM_001199984.2:c.463-7A>G | NP_001186913.1:n.463-7A>G |