Linked Data
dbSNP Id:
rs1344278816
gnomAD v2:
11-110499157-T-C
gnomAD v3:
11-110628434-T-C
gnomAD v4:
11-110628434-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110628434T>C , CM000673.2:g.110628434T>C | GRCh38 |
| NC_000011.9:g.110499157T>C , CM000673.1:g.110499157T>C | GRCh37 |
| NC_000011.8:g.110004367T>C | NCBI36 |
| NG_051657.1:g.89756A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683387.1:c.353+2194A>G MANE Select | ENSP00000507405.1:n.353+2194A>G | |
| ENST00000260283.8:c.353+2194A>G | ENSP00000260283.4:n.353+2194A>G | |
| ENST00000524756.5:c.284+2194A>G | ENSP00000432076.1:n.284+2194A>G | |
| ENST00000527598.1:c.245+2194A>G | ENSP00000431399.1:n.245+2194A>G | |
| ENST00000528829.5:c.245+2194A>G | ENSP00000436319.1:n.245+2194A>G | |
| ENST00000533353.5:c.275+2194A>G | ENSP00000436522.1:n.275+2194A>G | |
| NM_001258415.1:c.284+2194A>G | NP_001245344.1:n.284+2194A>G | |
| NM_001258416.1:c.275+2194A>G | NP_001245345.1:n.275+2194A>G | |
| NM_001258417.1:c.245+2194A>G | NP_001245346.1:n.245+2194A>G | |
| NM_001258418.1:c.245+2194A>G | NP_001245347.1:n.245+2194A>G | |
| NM_020809.3:c.353+2194A>G | NP_065860.2:n.353+2194A>G | |
| XM_006718893.2:c.353+2194A>G | XP_006718956.1:n.353+2194A>G | |
| XM_006718893.3:c.353+2194A>G | XP_006718956.1:n.353+2194A>G | |
| NM_001258415.2:c.284+2194A>G | NP_001245344.1:n.284+2194A>G | |
| NM_001258416.2:c.275+2194A>G | NP_001245345.1:n.275+2194A>G | |
| NM_001258417.2:c.245+2194A>G | NP_001245346.1:n.245+2194A>G | |
| NM_001258418.2:c.245+2194A>G | NP_001245347.1:n.245+2194A>G | |
| NM_001384657.1:c.353+2194A>G MANE Select | NP_001371586.1:n.353+2194A>G | |
| NM_020809.4:c.353+2194A>G | NP_065860.2:n.353+2194A>G |