Linked Data
dbSNP Id:
rs1232113518
gnomAD v2:
14-23884294-C-CAT
gnomAD v3:
14-23415085-C-CAT
gnomAD v4:
14-23415085-C-CAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415085_23415086insAT , CM000676.2:g.23415085_23415086insAT | GRCh38 |
| NC_000014.8:g.23884294_23884295insAT , CM000676.1:g.23884294_23884295insAT | GRCh37 |
| NC_000014.7:g.22954134_22954135insAT | NCBI36 |
| NG_007884.1:g.25576_25577insAT , LRG_384:g.25576_25577insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5468_5469insAT MANE Select | ENSP00000347507.3:p.Asn1824Ter | |
| ENST00000355349.3:c.5468_5469insAT | ENSP00000347507.3:p.Asn1824Ter | |
| NM_000257.3:c.5468_5469insAT | NP_000248.2:p.Asn1824Ter | |
| XM_017021340.1:c.5468_5469insAT | XP_016876829.1:p.Asn1824Ter | |
| NM_000257.4:c.5468_5469insAT MANE Select | NP_000248.2:p.Asn1824Ter |