Linked Data
dbSNP Id:
rs1421637264
gnomAD v2:
19-41848288-G-GCT
gnomAD v3:
19-41342383-G-GCT
gnomAD v4:
19-41342383-G-GCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41342390_41342391dup , CM000681.2:g.41342390_41342391dup | GRCh38 |
| NC_000019.9:g.41848295_41848296dup , CM000681.1:g.41848295_41848296dup | GRCh37 |
| NC_000019.8:g.46540135_46540136dup | NCBI36 |
| NG_013364.1:g.16542_16543dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.635-138_635-137dup MANE Select | ENSP00000221930.4:n.635-138_635-137dup | |
| ENST00000600196.2:c.635-138_635-137dup | ENSP00000504008.1:n.635-138_635-137dup | |
| ENST00000677934.1:c.634+2362_634+2363dup | ENSP00000504769.1:n.634+2362_634+2363dup | |
| ENST00000221930.5:c.635-138_635-137dup | ENSP00000221930.4:n.635-138_635-137dup | |
| ENST00000597453.1:n.166-138_166-137dup | ||
| ENST00000600196.1:n.95-138_95-137dup | ||
| NM_000660.5:c.635-138_635-137dup | NP_000651.3:n.635-138_635-137dup | |
| XM_011527242.1:c.635-138_635-137dup | XP_011525544.1:n.635-138_635-137dup | |
| NM_000660.6:c.635-138_635-137dup | NP_000651.3:n.635-138_635-137dup | |
| XM_011527242.2:c.635-138_635-137dup | XP_011525544.1:n.635-138_635-137dup | |
| NM_000660.7:c.635-138_635-137dup MANE Select | NP_000651.3:n.635-138_635-137dup |