Linked Data
dbSNP Id:
rs746372702
ExAC:
14:50088644 G / GGC
gnomAD v2:
14-50088644-G-GGC
gnomAD v4:
14-49621926-G-GGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621927_49621928dup , CM000676.2:g.49621927_49621928dup | GRCh38 |
| NC_000014.8:g.50088645_50088646dup , CM000676.1:g.50088645_50088646dup | GRCh37 |
| NC_000014.7:g.49158395_49158396dup | NCBI36 |
| NG_008920.1:g.6157_6158dup | |
| NG_033054.1:g.3704_3705dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.659_660dup MANE Select | ENSP00000307423.2:p.His221AlafsTer26 | |
| ENST00000305386.3:c.659_660dup | ENSP00000307423.2:p.His221AlafsTer26 | |
| NM_002408.3:c.659_660dup | NP_002399.1:p.His221AlafsTer26 | |
| NM_002408.4:c.659_660dup MANE Select | NP_002399.1:p.His221AlafsTer26 |