Linked Data
dbSNP Id:
rs1023609831
gnomAD v2:
17-61909749-A-C
gnomAD v3:
17-63832389-A-C
gnomAD v4:
17-63832389-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63832389A>C , CM000679.2:g.63832389A>C | GRCh38 |
| NC_000017.10:g.61909749A>C , CM000679.1:g.61909749A>C | GRCh37 |
| NC_000017.9:g.59263481A>C | NCBI36 |
| NG_053004.1:g.15603T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584483.6:n.2424T>G | ||
| ENST00000697953.1:n.2997T>G | ||
| ENST00000698013.1:n.3109T>G | ||
| ENST00000698014.1:n.3332T>G | ||
| ENST00000698015.1:n.2425T>G | ||
| ENST00000698016.1:c.*549T>G | ENSP00000513502.1:n.*549T>G | |
| ENST00000698017.1:n.2499T>G | ||
| ENST00000698018.1:n.2630T>G | ||
| ENST00000698019.1:n.2828T>G | ||
| ENST00000698020.1:n.1934T>G | ||
| ENST00000698021.1:c.1843T>G | ||
| ENST00000698022.1:c.*549T>G | ENSP00000513504.1:n.*549T>G | |
| ENST00000698023.1:n.2528T>G | ||
| ENST00000698024.1:n.2390T>G | ||
| ENST00000698025.1:n.2550T>G | ||
| ENST00000698026.1:n.1441T>G | ||
| ENST00000698027.1:c.*766T>G | ENSP00000513505.1:n.*766T>G | |
| ENST00000698028.1:n.2633T>G | ||
| ENST00000698029.1:n.3362T>G | ||
| ENST00000448276.7:c.*549T>G MANE Select | ENSP00000392617.2:n.*549T>G | |
| ENST00000448276.6:c.*549T>G | ENSP00000392617.2:n.*549T>G | |
| ENST00000613943.4:c.2034T>G | ENSP00000483605.1:n.2034T>G | |
| NM_001098426.1:c.*549T>G | NP_001091896.1:n.*549T>G | |
| XM_005257604.2:c.*549T>G | XP_005257661.2:n.*549T>G | |
| NM_001330439.1:c.*549T>G | NP_001317368.1:n.*549T>G | |
| NM_001330440.1:c.*549T>G | NP_001317369.1:n.*549T>G | |
| NM_001098426.2:c.*549T>G MANE Select | NP_001091896.1:n.*549T>G | |
| NM_001330440.2:c.*549T>G | NP_001317369.1:n.*549T>G |