Linked Data
dbSNP Id:
rs760999534
ExAC:
1:94466597 A / T
gnomAD v2:
1-94466597-A-T
gnomAD v4:
1-94001041-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001041A>T , CM000663.2:g.94001041A>T | GRCh38 |
| NC_000001.10:g.94466597A>T , CM000663.1:g.94466597A>T | GRCh37 |
| NC_000001.9:g.94239185A>T | NCBI36 |
| NG_009073.1:g.125109T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6347T>A MANE Select | ENSP00000359245.3:p.Ile2116Asn | |
| ENST00000370225.3:c.6347T>A | ENSP00000359245.3:p.Ile2116Asn | |
| ENST00000536513.5:c.2723T>A | ENSP00000439707.2:p.Ile908Asn | |
| NM_000350.2:c.6347T>A | NP_000341.2:p.Ile2116Asn | |
| NM_000350.3:c.6347T>A MANE Select | NP_000341.2:p.Ile2116Asn |