Linked Data
ClinVar Variation Id:
371541
dbSNP Id:
rs1057517353
gnomAD v2:
1-183177080-T-TAATGG
gnomAD v4:
1-183207945-T-TAATGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183207947_183207951dup , CM000663.2:g.183207947_183207951dup | GRCh38 |
| NC_000001.10:g.183177082_183177086dup , CM000663.1:g.183177082_183177086dup | GRCh37 |
| NC_000001.9:g.181443705_181443709dup | NCBI36 |
| NG_007079.2:g.26684_26688dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264144.5:c.146_150dup MANE Select | ENSP00000264144.4:p.Phe51MetfsTer? | |
| ENST00000264144.4:c.146_150dup | ENSP00000264144.4:p.Phe51MetfsTer? | |
| ENST00000493293.5:c.146_150dup | ENSP00000432063.1:p.Phe51MetfsTer? | |
| NM_005562.2:c.146_150dup | NP_005553.2:p.Phe51MetfsTer? | |
| NM_018891.2:c.146_150dup | NP_061486.2:p.Phe51MetfsTer? | |
| XM_017001273.2:c.146_150dup | XP_016856762.1:p.Phe51MetfsTer? | |
| NM_005562.3:c.146_150dup MANE Select | NP_005553.2:p.Phe51MetfsTer? | |
| NM_018891.3:c.146_150dup | NP_061486.2:p.Phe51MetfsTer? |