Linked Data
dbSNP Id:
rs1757472981
gnomAD v3:
5-156760133-T-TAAATCAGCACAAA
gnomAD v4:
5-156760133-T-TAAATCAGCACAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156760135_156760147dup , CM000667.2:g.156760135_156760147dup | GRCh38 |
| NC_000005.9:g.156187146_156187158dup , CM000667.1:g.156187146_156187158dup | GRCh37 |
| NC_000005.8:g.156119724_156119736dup | NCBI36 |
| NG_008693.2:g.894793_894805dup , LRG_205:g.894793_894805dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.*745_*757dup MANE Select | ENSP00000338343.4:n.*745_*757dup | |
| ENST00000435422.7:c.*745_*757dup | ENSP00000403003.2:n.*745_*757dup | |
| NM_000337.5:c.*745_*757dup , LRG_205t1:c.*745_*757dup | NP_000328.2:n.*745_*757dup | |
| NM_001128209.1:c.*745_*757dup | NP_001121681.1:n.*745_*757dup | |
| XM_005265966.3:c.*745_*757dup | XP_005266023.1:n.*745_*757dup | |
| XM_006714911.2:c.*745_*757dup | XP_006714974.1:n.*745_*757dup | |
| XM_011534621.1:c.*745_*757dup | XP_011532923.1:n.*745_*757dup | |
| NM_001128209.2:c.*745_*757dup | NP_001121681.1:n.*745_*757dup | |
| NM_000337.6:c.*745_*757dup MANE Select | NP_000328.2:n.*745_*757dup |