Linked Data
ClinVar Variation Id:
194008
dbSNP Id:
rs2229109
ExAC:
7:87179809 C / T
gnomAD v2:
7-87179809-C-T
gnomAD v3:
7-87550493-C-T
gnomAD v4:
7-87550493-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87550493C>T , CM000669.2:g.87550493C>T | GRCh38 |
| NC_000007.13:g.87179809C>T , CM000669.1:g.87179809C>T | GRCh37 |
| NC_000007.12:g.87017745C>T | NCBI36 |
| NG_011513.1:g.167756G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265724.8:c.1199G>A | ENSP00000265724.3:p.Ser400Asn | |
| ENST00000622132.5:c.1199G>A MANE Select | ENSP00000478255.1:p.Ser400Asn | |
| ENST00000265724.7:c.1199G>A | ENSP00000265724.3:p.Ser400Asn | |
| ENST00000543898.5:c.1007G>A | ENSP00000444095.1:p.Ser336Asn | |
| ENST00000622132.4:c.1199G>A | ENSP00000478255.1:p.Ser400Asn | |
| NM_000927.4:c.1199G>A | NP_000918.2:p.Ser400Asn | |
| NM_001348944.1:c.1199G>A | NP_001335873.1:p.Ser400Asn | |
| NM_001348945.1:c.1409G>A | NP_001335874.1:p.Ser470Asn | |
| NM_001348946.1:c.1199G>A | NP_001335875.1:p.Ser400Asn | |
| NM_001348946.2:c.1199G>A MANE Select | NP_001335875.1:p.Ser400Asn | |
| NM_000927.5:c.1199G>A | NP_000918.2:p.Ser400Asn | |
| NM_001348944.2:c.1199G>A | NP_001335873.1:p.Ser400Asn | |
| NM_001348945.2:c.1409G>A | NP_001335874.1:p.Ser470Asn |