Linked Data
dbSNP Id:
rs762588717
ExAC:
10:69571296 C / T
gnomAD v2:
10-69571296-C-T
gnomAD v3:
10-67811538-C-T
gnomAD v4:
10-67811538-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67811538C>T , CM000672.2:g.67811538C>T | GRCh38 |
| NC_000010.10:g.69571296C>T , CM000672.1:g.69571296C>T | GRCh37 |
| NC_000010.9:g.69241302C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225171.7:c.283G>A MANE Select | ENSP00000225171.2:p.Asp95Asn | |
| ENST00000225171.6:c.283G>A | ENSP00000225171.2:p.Asp95Asn | |
| ENST00000339758.7:c.283G>A | ENSP00000343575.6:p.Asp95Asn | |
| ENST00000480180.1:c.*302G>A | ENSP00000474804.1:n.*302G>A | |
| ENST00000480963.5:c.*203G>A | ENSP00000473979.1:n.*203G>A | |
| ENST00000483798.6:c.373G>A | ENSP00000474215.1:p.Asp125Asn | |
| NM_021800.2:c.283G>A | NP_068572.1:p.Asp95Asn | |
| NM_201262.1:c.283G>A | NP_957714.1:p.Asp95Asn | |
| XM_011539967.1:c.313G>A | XP_011538269.1:p.Asp105Asn | |
| XM_017016431.1:c.37G>A | XP_016871920.1:p.Asp13Asn | |
| XM_017016432.2:c.37G>A | XP_016871921.1:p.Asp13Asn | |
| NM_021800.3:c.283G>A MANE Select | NP_068572.1:p.Asp95Asn | |
| NM_201262.2:c.283G>A | NP_957714.1:p.Asp95Asn |