Linked Data
ClinVar Variation Id:
460003
dbSNP Id:
rs368961588
ExAC:
1:1961415 C / T
gnomAD v2:
1-1961415-C-T
gnomAD v3:
1-2029976-C-T
gnomAD v4:
1-2029976-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2029976C>T , CM000663.2:g.2029976C>T | GRCh38 |
| NC_000001.10:g.1961415C>T , CM000663.1:g.1961415C>T | GRCh37 |
| NC_000001.9:g.1951275C>T | NCBI36 |
| NG_008168.1:g.15648C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378585.7:c.1060-7C>T MANE Select | ENSP00000367848.4:n.1060-7C>T | |
| ENST00000638411.1:c.1091-7C>T | ENSP00000491632.1:n.1091-7C>T | |
| ENST00000638604.1:n.1619-7C>T | ||
| ENST00000638771.1:c.1273C>T | ENSP00000492435.1:p.Arg425Cys | |
| ENST00000638804.1:c.498-7C>T | ENSP00000491871.1:n.498-7C>T | |
| ENST00000639045.1:c.*1046-7C>T | ENSP00000491997.1:n.*1046-7C>T | |
| ENST00000639070.1:n.1639-7C>T | ||
| ENST00000639777.1:n.1664-7C>T | ||
| ENST00000640030.1:c.844-7C>T | ENSP00000491411.1:n.844-7C>T | |
| ENST00000640067.1:c.1144-7C>T | ENSP00000491844.1:n.1144-7C>T | |
| ENST00000640317.1:n.1409-7C>T | ||
| ENST00000640423.1:n.1069-7C>T | ||
| ENST00000640688.1:n.561-7C>T | ||
| ENST00000640892.1:n.1727-7C>T | ||
| ENST00000640949.1:c.991-7C>T | ENSP00000492500.1:n.991-7C>T | |
| ENST00000378585.5:c.1060-7C>T | ENSP00000367848.4:n.1060-7C>T | |
| NM_000815.4:c.1060-7C>T | NP_000806.2:n.1060-7C>T | |
| XM_011541194.1:c.1099-7C>T | XP_011539496.1:n.1099-7C>T | |
| XM_011541194.3:c.1099-7C>T | XP_011539496.1:n.1099-7C>T | |
| XM_017000936.1:c.1765-7C>T | XP_016856425.1:n.1765-7C>T | |
| NM_000815.5:c.1060-7C>T MANE Select | NP_000806.2:n.1060-7C>T |