Linked Data
dbSNP Id:
rs754006349
ExAC:
1:1470768 TGTG / T
gnomAD v2:
1-1470768-TGTG-T
gnomAD v3:
1-1535388-TGTG-T
gnomAD v4:
1-1535388-TGTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535391_1535393del , CM000663.2:g.1535391_1535393del | GRCh38 |
| NC_000001.10:g.1470771_1470773del , CM000663.1:g.1470771_1470773del | GRCh37 |
| NC_000001.9:g.1460634_1460636del | NCBI36 |
| NG_041807.1:g.9970_9972del | |
| NG_053035.1:g.28249_28251del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.490_492del MANE Select | ENSP00000368007.4:p.His164del | |
| ENST00000378733.8:c.490_492del | ENSP00000368007.4:p.His164del | |
| ENST00000425828.1:c.490_492del | ENSP00000400311.1:p.His164del | |
| NM_001114748.1:c.490_492del | NP_001108220.1:p.His164del | |
| NM_001114748.2:c.490_492del MANE Select | NP_001108220.1:p.His164del |