Linked Data
dbSNP Id:
rs767252235
ExAC:
11:71906474 T / TC
gnomAD v2:
11-71906474-T-TC
gnomAD v4:
11-72195430-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72195435dup , CM000673.2:g.72195435dup | GRCh38 |
| NC_000011.9:g.71906479dup , CM000673.1:g.71906479dup | GRCh37 |
| NC_000011.8:g.71584127dup | NCBI36 |
| NG_015863.1:g.10878dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312293.9:c.333dup | ENSP00000308137.4:p.Asn112GlnfsTer29 | |
| ENST00000393676.5:c.333dup MANE Select | ENSP00000377281.3:p.Asn112GlnfsTer29 | |
| ENST00000675784.1:c.333dup | ENSP00000502440.1:p.Asn112GlnfsTer29 | |
| ENST00000312293.8:c.333dup | ENSP00000308137.4:p.Asn112GlnfsTer29 | |
| ENST00000393676.3:c.333dup | ENSP00000377281.3:p.Asn112GlnfsTer29 | |
| ENST00000393679.5:c.333dup | ENSP00000377284.1:p.Asn112GlnfsTer29 | |
| ENST00000393681.6:c.333dup | ENSP00000377286.2:p.Asn112GlnfsTer29 | |
| NM_000802.3:c.333dup | NP_000793.1:p.Asn112GlnfsTer29 | |
| NM_016724.2:c.333dup | NP_057936.1:p.Asn112GlnfsTer29 | |
| NM_016725.2:c.333dup | NP_057937.1:p.Asn112GlnfsTer29 | |
| NM_016729.2:c.333dup | NP_057941.1:p.Asn112GlnfsTer29 | |
| NM_016729.3:c.333dup MANE Select | NP_057941.1:p.Asn112GlnfsTer29 | |
| NM_016724.3:c.333dup | NP_057936.1:p.Asn112GlnfsTer29 | |
| NM_016725.3:c.333dup | NP_057937.1:p.Asn112GlnfsTer29 |