Linked Data
ClinVar Variation Id:
14231
dbSNP Id:
rs199422224
gnomAD v2:
2-207009733-T-C
gnomAD v3:
2-206145009-T-C
gnomAD v4:
2-206145009-T-C
PubMed:
PMID:11349233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206145009T>C , CM000664.2:g.206145009T>C | GRCh38 |
| NC_000002.11:g.207009733T>C , CM000664.1:g.207009733T>C | GRCh37 |
| NC_000002.10:g.206717978T>C | NCBI36 |
| NG_009248.1:g.19455A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233190.11:c.755A>G MANE Select | ENSP00000233190.5:p.Asp252Gly | |
| ENST00000233190.10:c.755A>G | ENSP00000233190.5:p.Asp252Gly | |
| ENST00000423725.5:c.584A>G | ENSP00000397760.1:p.Asp195Gly | |
| ENST00000432169.5:c.422A>G | ENSP00000409689.1:p.Asp141Gly | |
| ENST00000440274.5:c.647A>G | ENSP00000409766.1:p.Asp216Gly | |
| ENST00000449699.5:c.755A>G | ENSP00000399912.1:p.Asp252Gly | |
| ENST00000455934.6:c.797A>G | ENSP00000392709.2:p.Asp266Gly | |
| ENST00000457011.5:c.407A>G | ENSP00000400976.1:p.Asp136Gly | |
| NM_001199981.1:c.647A>G | NP_001186910.1:p.Asp216Gly | |
| NM_001199982.1:c.422A>G | NP_001186911.1:p.Asp141Gly | |
| NM_001199983.1:c.584A>G | NP_001186912.1:p.Asp195Gly | |
| NM_001199984.1:c.797A>G | NP_001186913.1:p.Asp266Gly | |
| NM_005006.6:c.755A>G | NP_004997.4:p.Asp252Gly | |
| XM_017004188.2:c.-5A>G | XP_016859677.1:n.-5A>G | |
| NM_001199981.2:c.647A>G | NP_001186910.1:p.Asp216Gly | |
| NM_001199982.2:c.422A>G | NP_001186911.1:p.Asp141Gly | |
| NM_001199983.2:c.584A>G | NP_001186912.1:p.Asp195Gly | |
| NM_005006.7:c.755A>G MANE Select | NP_004997.4:p.Asp252Gly | |
| NM_001199984.2:c.797A>G | NP_001186913.1:p.Asp266Gly |