Linked Data
dbSNP Id:
rs748438605
gnomAD v3:
17-63832459-A-G
gnomAD v4:
17-63832459-A-G
MyVariant Identifiers:
chr17:g.63832459A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63832459A>G , CM000679.2:g.63832459A>G | GRCh38 |
| NC_000017.10:g.61909819A>G , CM000679.1:g.61909819A>G | GRCh37 |
| NC_000017.9:g.59263551A>G | NCBI36 |
| NG_053004.1:g.15533T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584483.6:n.2354T>C | ||
| ENST00000697953.1:n.2927T>C | ||
| ENST00000698013.1:n.3039T>C | ||
| ENST00000698014.1:n.3262T>C | ||
| ENST00000698015.1:n.2355T>C | ||
| ENST00000698016.1:c.*479T>C | ENSP00000513502.1:n.*479T>C | |
| ENST00000698017.1:n.2429T>C | ||
| ENST00000698018.1:n.2560T>C | ||
| ENST00000698019.1:n.2758T>C | ||
| ENST00000698020.1:n.1864T>C | ||
| ENST00000698021.1:c.1773T>C | ||
| ENST00000698022.1:c.*479T>C | ENSP00000513504.1:n.*479T>C | |
| ENST00000698023.1:n.2458T>C | ||
| ENST00000698024.1:n.2320T>C | ||
| ENST00000698025.1:n.2480T>C | ||
| ENST00000698026.1:n.1371T>C | ||
| ENST00000698027.1:c.*696T>C | ENSP00000513505.1:n.*696T>C | |
| ENST00000698028.1:n.2563T>C | ||
| ENST00000698029.1:n.3292T>C | ||
| ENST00000448276.7:c.*479T>C MANE Select | ENSP00000392617.2:n.*479T>C | |
| ENST00000448276.6:c.*479T>C | ENSP00000392617.2:n.*479T>C | |
| ENST00000613943.4:c.1964T>C | ENSP00000483605.1:n.1964T>C | |
| NM_001098426.1:c.*479T>C | NP_001091896.1:n.*479T>C | |
| XM_005257604.2:c.*479T>C | XP_005257661.2:n.*479T>C | |
| NM_001330439.1:c.*479T>C | NP_001317368.1:n.*479T>C | |
| NM_001330440.1:c.*479T>C | NP_001317369.1:n.*479T>C | |
| NM_001098426.2:c.*479T>C MANE Select | NP_001091896.1:n.*479T>C | |
| NM_001330440.2:c.*479T>C | NP_001317369.1:n.*479T>C |