Linked Data
dbSNP Id:
rs1049441519
gnomAD v2:
17-38784914-A-C
gnomAD v3:
17-40628662-A-C
gnomAD v4:
17-40628662-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628662A>C , CM000679.2:g.40628662A>C | GRCh38 |
| NC_000017.10:g.38784914A>C , CM000679.1:g.38784914A>C | GRCh37 |
| NC_000017.9:g.36038440A>C | NCBI36 |
| NG_032163.1:g.24190T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.*921T>G | ENSP00000466608.2:n.*921T>G | |
| ENST00000348513.12:c.*123T>G MANE Select | ENSP00000323967.6:n.*123T>G | |
| ENST00000377808.9:c.*346T>G | ENSP00000367039.4:n.*346T>G | |
| ENST00000400122.8:c.*346T>G | ENSP00000411607.2:n.*346T>G | |
| ENST00000469334.6:n.1957T>G | ||
| ENST00000578112.6:c.*1156T>G | ENSP00000464501.1:n.*1156T>G | |
| ENST00000580419.6:c.*338T>G | ENSP00000462475.2:n.*338T>G | |
| ENST00000642576.1:n.2502T>G | ||
| ENST00000643030.1:n.1982T>G | ||
| ENST00000643255.1:c.*3423T>G | ENSP00000493957.1:n.*3423T>G | |
| ENST00000643318.1:c.*123T>G | ENSP00000494771.1:n.*123T>G | |
| ENST00000643378.1:n.1914T>G | ||
| ENST00000643683.1:c.*123T>G | ENSP00000496094.1:n.*123T>G | |
| ENST00000643893.1:n.1652T>G | ||
| ENST00000644443.1:n.3247T>G | ||
| ENST00000644523.1:n.1405T>G | ||
| ENST00000644527.1:c.*123T>G | ENSP00000493974.1:n.*123T>G | |
| ENST00000644701.1:c.*346T>G | ENSP00000496097.1:n.*346T>G | |
| ENST00000644909.1:c.*628T>G | ENSP00000493649.1:n.*628T>G | |
| ENST00000645152.1:n.2022T>G | ||
| ENST00000645227.1:c.*1047T>G | ENSP00000495021.1:n.*1047T>G | |
| ENST00000646242.1:n.7271T>G | ||
| ENST00000646283.1:c.*123T>G | ENSP00000494537.1:n.*123T>G | |
| ENST00000646401.1:n.2725T>G | ||
| ENST00000646856.1:c.*1235T>G | ENSP00000494505.1:n.*1235T>G | |
| ENST00000647294.1:c.*1289T>G | ENSP00000494815.1:n.*1289T>G | |
| ENST00000647508.1:c.*123T>G | ENSP00000496445.1:n.*123T>G | |
| ENST00000647515.1:c.*890T>G | ENSP00000495857.1:n.*890T>G | |
| ENST00000348513.10:c.*123T>G | ENSP00000323967.6:n.*123T>G | |
| ENST00000431889.6:c.*123T>G | ENSP00000445370.1:n.*123T>G | |
| ENST00000469334.5:n.1946T>G | ||
| ENST00000578112.5:c.*1156T>G | ENSP00000464501.1:n.*1156T>G | |
| NM_003079.4:c.*123T>G | NP_003070.3:n.*123T>G | |
| NM_003079.5:c.*123T>G MANE Select | NP_003070.3:n.*123T>G |