Linked Data
ClinVar Variation Id:
37315
ClinVar RCV Id:
RCV000030855
dbSNP Id:
rs373849532
ExAC:
5:130495187 G / T
gnomAD v2:
5-130495187-G-T
gnomAD v3:
5-131159494-G-T
gnomAD v4:
5-131159494-G-T
PubMed:
PMID:22961002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131159494G>T , CM000667.2:g.131159494G>T | GRCh38 |
| NC_000005.9:g.130495187G>T , CM000667.1:g.130495187G>T | GRCh37 |
| NC_000005.8:g.130523086G>T | NCBI36 |
| NG_032998.1:g.10855C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304043.10:c.334C>A MANE Select | ENSP00000304229.5:p.His112Asn | |
| ENST00000506207.2:n.459C>A | ||
| ENST00000506908.2:c.*3057C>A | ENSP00000426860.1:n.*3057C>A | |
| ENST00000508488.2:c.*436C>A | ENSP00000427499.1:n.*436C>A | |
| ENST00000511475.6:c.*367C>A | ENSP00000427008.1:n.*367C>A | |
| ENST00000513012.2:c.*3131C>A | ENSP00000422444.1:n.*3131C>A | |
| ENST00000513345.6:c.*620C>A | ENSP00000421608.1:n.*620C>A | |
| ENST00000520028.2:c.*533C>A | ENSP00000430909.2:n.*533C>A | |
| ENST00000675100.1:c.216+3078C>A | ENSP00000502350.1:n.216+3078C>A | |
| ENST00000675135.1:n.693C>A | ||
| ENST00000675372.1:c.*171C>A | ENSP00000502792.1:n.*171C>A | |
| ENST00000675491.1:c.*2888C>A | ENSP00000502370.1:n.*2888C>A | |
| ENST00000676117.1:n.786C>A | ||
| ENST00000304043.9:c.334C>A | ENSP00000304229.5:p.His112Asn | |
| ENST00000506207.1:n.353C>A | ||
| ENST00000508495.5:c.*286C>A | ENSP00000424974.1:n.*286C>A | |
| ENST00000511475.5:c.*367C>A | ENSP00000427008.1:n.*367C>A | |
| ENST00000513345.5:c.*171C>A | ENSP00000421608.1:n.*171C>A | |
| NM_005340.6:c.334C>A | NP_005331.1:p.His112Asn | |
| NR_024610.2:n.666C>A | ||
| NR_024611.2:n.512C>A | ||
| NR_073488.1:n.857C>A | ||
| NR_134494.1:n.822C>A | ||
| NR_134495.1:n.926C>A | ||
| NM_005340.7:c.334C>A MANE Select | NP_005331.1:p.His112Asn | |
| NR_024610.3:n.574C>A | ||
| NR_024611.3:n.420C>A | ||
| NR_073488.2:n.765C>A | ||
| NR_134494.2:n.730C>A | ||
| NR_134495.2:n.834C>A |