Linked Data
dbSNP Id:
rs1285251796
gnomAD v2:
17-61909571-C-A
gnomAD v3:
17-63832211-C-A
gnomAD v4:
17-63832211-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63832211C>A , CM000679.2:g.63832211C>A | GRCh38 |
| NC_000017.10:g.61909571C>A , CM000679.1:g.61909571C>A | GRCh37 |
| NC_000017.9:g.59263303C>A | NCBI36 |
| NG_053004.1:g.15781G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584483.6:n.2602G>T | ||
| ENST00000697953.1:n.3175G>T | ||
| ENST00000698013.1:n.3287G>T | ||
| ENST00000698014.1:n.3510G>T | ||
| ENST00000698015.1:n.2603G>T | ||
| ENST00000698016.1:c.*727G>T | ENSP00000513502.1:n.*727G>T | |
| ENST00000698017.1:n.2677G>T | ||
| ENST00000698018.1:n.2808G>T | ||
| ENST00000698019.1:n.3006G>T | ||
| ENST00000698020.1:n.2112G>T | ||
| ENST00000698021.1:c.2021G>T | ||
| ENST00000698022.1:c.*727G>T | ENSP00000513504.1:n.*727G>T | |
| ENST00000698023.1:n.2706G>T | ||
| ENST00000698024.1:n.2568G>T | ||
| ENST00000698025.1:n.2728G>T | ||
| ENST00000698026.1:n.1619G>T | ||
| ENST00000698027.1:c.*944G>T | ENSP00000513505.1:n.*944G>T | |
| ENST00000698028.1:n.2811G>T | ||
| ENST00000448276.7:c.*727G>T MANE Select | ENSP00000392617.2:n.*727G>T | |
| ENST00000448276.6:c.*727G>T | ENSP00000392617.2:n.*727G>T | |
| ENST00000613943.4:c.2212G>T | ENSP00000483605.1:n.2212G>T | |
| NM_001098426.1:c.*727G>T | NP_001091896.1:n.*727G>T | |
| XM_005257604.2:c.*727G>T | XP_005257661.2:n.*727G>T | |
| NM_001330439.1:c.*727G>T | NP_001317368.1:n.*727G>T | |
| NM_001330440.1:c.*727G>T | NP_001317369.1:n.*727G>T | |
| NM_001098426.2:c.*727G>T MANE Select | NP_001091896.1:n.*727G>T | |
| NM_001330440.2:c.*727G>T | NP_001317369.1:n.*727G>T |