Linked Data
dbSNP Id:
rs2297322
ExAC:
13:99376181 C / T
gnomAD v2:
13-99376181-C-T
gnomAD v3:
13-98723927-C-T
gnomAD v4:
13-98723927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.98723927C>T , CM000675.2:g.98723927C>T | GRCh38 |
| NC_000013.10:g.99376181C>T , CM000675.1:g.99376181C>T | GRCh37 |
| NC_000013.9:g.98174182C>T | NCBI36 |
| NG_017032.1:g.33749G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376503.10:c.350G>A MANE Select | ENSP00000365686.4:p.Ser117Asn | |
| ENST00000376494.1:n.447G>A | ||
| ENST00000376503.9:c.350G>A | ENSP00000365686.4:p.Ser117Asn | |
| ENST00000613008.1:c.380G>A | ENSP00000482440.1:p.Ser127Asn | |
| ENST00000618992.4:c.350G>A | ENSP00000478051.1:p.Ser117Asn | |
| NM_005073.3:c.350G>A | NP_005064.1:p.Ser117Asn | |
| NM_005073.4:c.350G>A MANE Select | NP_005064.1:p.Ser117Asn |