Linked Data
dbSNP Id:
rs1297423083
gnomAD v2:
1-65298820-T-TC
gnomAD v3:
1-64833137-T-TC
gnomAD v4:
1-64833137-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833143dup , CM000663.2:g.64833143dup | GRCh38 |
| NC_000001.10:g.65298826dup , CM000663.1:g.65298826dup | GRCh37 |
| NC_000001.9:g.65071414dup | NCBI36 |
| NG_023402.1:g.138367dup | |
| NG_023402.2:g.239609dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2158dup MANE Select | ENSP00000294428.3:n.*2158dup | |
| ENST00000294428.7:c.*2158dup | ENSP00000294428.3:n.*2158dup | |
| ENST00000371072.8:c.*2158dup | ENSP00000360112.4:n.*2158dup | |
| NM_018211.3:c.*2158dup | NP_060681.2:n.*2158dup | |
| XM_006710738.2:c.*2158dup | XP_006710801.2:n.*2158dup | |
| NM_001366165.1:c.*2158dup | NP_001353094.1:n.*2158dup | |
| XR_946693.3:n.4577dup | ||
| NM_018211.4:c.*2158dup | NP_060681.2:n.*2158dup | |
| NM_001366165.2:c.*2158dup MANE Select | NP_001353094.1:n.*2158dup |