Linked Data
dbSNP Id:
rs3771362
gnomAD v2:
2-198962831-C-T
gnomAD v3:
2-198098107-C-T
gnomAD v4:
2-198098107-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.198098107C>T , CM000664.2:g.198098107C>T | GRCh38 |
| NC_000002.11:g.198962831C>T , CM000664.1:g.198962831C>T | GRCh37 |
| NC_000002.10:g.198671076C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000428675.6:c.2920-3178C>T MANE Select | ENSP00000402861.1:n.2920-3178C>T | |
| ENST00000428675.5:c.2920-3178C>T | ENSP00000402861.1:n.2920-3178C>T | |
| ENST00000435320.1:c.*2692-3178C>T | ENSP00000410488.1:n.*2692-3178C>T | |
| ENST00000437704.3:c.2689-3178C>T | ENSP00000414138.3:n.2689-3178C>T | |
| ENST00000487695.6:c.2698-3178C>T | ENSP00000457588.1:n.2698-3178C>T | |
| NM_006226.3:c.2920-3178C>T | NP_006217.3:n.2920-3178C>T | |
| XM_005246643.2:c.2698-3178C>T | XP_005246700.1:n.2698-3178C>T | |
| XM_005246644.2:c.2683-3178C>T | XP_005246701.1:n.2683-3178C>T | |
| XM_011511351.1:c.2683-3178C>T | XP_011509653.1:n.2683-3178C>T | |
| XM_005246643.4:c.2698-3178C>T | XP_005246700.1:n.2698-3178C>T | |
| XM_005246644.4:c.2683-3178C>T | XP_005246701.1:n.2683-3178C>T | |
| XM_011511351.2:c.2683-3178C>T | XP_011509653.1:n.2683-3178C>T | |
| XM_017004339.2:c.2683-3178C>T | XP_016859828.1:n.2683-3178C>T | |
| XM_017004340.2:c.2626-3178C>T | XP_016859829.1:n.2626-3178C>T | |
| NM_006226.4:c.2920-3178C>T MANE Select | NP_006217.3:n.2920-3178C>T |