Linked Data
ClinVar Variation Id:
2671742
ClinVar RCV Id:
RCV003448826
dbSNP Id:
rs759510208
ExAC:
5:71490990 C / A
gnomAD v2:
5-71490990-C-A
gnomAD v4:
5-72195163-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.72195163C>A , CM000667.2:g.72195163C>A | GRCh38 |
| NC_000005.9:g.71490990C>A , CM000667.1:g.71490990C>A | GRCh37 |
| NC_000005.8:g.71526746C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296755.12:c.1808C>A MANE Select | ENSP00000296755.7:p.Thr603Asn | |
| ENST00000296755.11:c.1808C>A | ENSP00000296755.7:p.Thr603Asn | |
| ENST00000504492.1:c.1430C>A | ENSP00000423416.1:p.Thr477Asn | |
| ENST00000511641.2:c.1859C>A | ENSP00000423444.2:p.Thr620Asn | |
| ENST00000513526.6:c.*1528C>A | ENSP00000427194.2:n.*1528C>A | |
| NM_005909.3:c.1808C>A | NP_005900.2:p.Thr603Asn | |
| XM_005248507.2:c.1430C>A | XP_005248564.1:p.Thr477Asn | |
| NM_001324255.1:c.1430C>A | NP_001311184.1:p.Thr477Asn | |
| NM_005909.4:c.1808C>A | NP_005900.2:p.Thr603Asn | |
| NM_005909.5:c.1808C>A MANE Select | NP_005900.2:p.Thr603Asn | |
| NM_001324255.2:c.1430C>A | NP_001311184.1:p.Thr477Asn |