Linked Data
ClinVar Variation Id:
2573381
ClinVar RCV Id:
RCV003317717
dbSNP Id:
rs189845122
ExAC:
11:128709942 A / T
gnomAD v2:
11-128709942-A-T
gnomAD v3:
11-128840047-A-T
gnomAD v4:
11-128840047-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128840047A>T , CM000673.2:g.128840047A>T | GRCh38 |
| NC_000011.9:g.128709942A>T , CM000673.1:g.128709942A>T | GRCh37 |
| NC_000011.8:g.128215152A>T | NCBI36 |
| NG_009379.1:g.32327T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.197T>A MANE Select | ENSP00000376434.1:p.Ile66Asn | |
| ENST00000324003.3:c.197T>A | ENSP00000316136.3:p.Ile66Asn | |
| ENST00000324036.7:c.197T>A | ENSP00000316233.3:p.Ile66Asn | |
| ENST00000392664.2:c.254T>A | ENSP00000376432.2:p.Ile85Asn | |
| ENST00000392665.6:c.197T>A | ENSP00000376433.2:p.Ile66Asn | |
| ENST00000392666.5:c.197T>A | ENSP00000376434.1:p.Ile66Asn | |
| ENST00000440599.6:c.197T>A | ENSP00000406320.2:p.Ile66Asn | |
| NM_000220.4:c.254T>A | NP_000211.1:p.Ile85Asn | |
| NM_153764.2:c.197T>A | NP_722448.1:p.Ile66Asn | |
| NM_153765.2:c.248T>A | NP_722449.3:p.Ile83Asn | |
| NM_153766.2:c.197T>A | NP_722450.1:p.Ile66Asn | |
| NM_153767.3:c.197T>A | NP_722451.1:p.Ile66Asn | |
| NM_000220.6:c.254T>A | NP_000211.1:p.Ile85Asn | |
| NM_153764.3:c.197T>A | NP_722448.1:p.Ile66Asn | |
| NM_153765.3:c.248T>A | NP_722449.3:p.Ile83Asn | |
| NM_153766.3:c.197T>A MANE Select | NP_722450.1:p.Ile66Asn | |
| NM_153767.4:c.197T>A | NP_722451.1:p.Ile66Asn |