Linked Data
ClinVar Variation Id:
13506
ClinVar RCV Id:
RCV000014458
dbSNP Id:
rs121918050
gnomAD v2:
15-89864974-T-C
gnomAD v3:
15-89321743-T-C
gnomAD v4:
15-89321743-T-C
PubMed:
PMID:12825077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89321743T>C , CM000677.2:g.89321743T>C | GRCh38 |
| NC_000015.9:g.89864974T>C , CM000677.1:g.89864974T>C | GRCh37 |
| NC_000015.8:g.87665978T>C | NCBI36 |
| NG_008218.1:g.18053A>G | |
| NG_008218.2:g.18053A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.2591A>G | ENSP00000516154.1:p.Asn864Ser | |
| ENST00000268124.11:c.2591A>G MANE Select | ENSP00000268124.5:p.Asn864Ser | |
| ENST00000530292.3:c.2192A>G | ENSP00000432885.2:p.Asn731Ser | |
| ENST00000635986.2:c.2591A>G | ENSP00000490653.2:p.Asn864Ser | |
| ENST00000636774.1:c.*1158A>G | ENSP00000489799.1:n.*1158A>G | |
| ENST00000637238.1:c.1288A>G | ENSP00000490756.1:n.1288A>G | |
| ENST00000637264.1:c.1663A>G | ||
| ENST00000666746.1:c.2168A>G | ||
| ENST00000670281.1:c.800+219A>G | ENSP00000499709.1:n.800+219A>G | |
| ENST00000672071.1:n.2789A>G | ||
| ENST00000672923.2:n.2533A>G | ||
| ENST00000268124.9:c.2591A>G | ENSP00000268124.5:p.Asn864Ser | |
| ENST00000442287.6:c.2591A>G | ENSP00000399851.2:p.Asn864Ser | |
| ENST00000528881.2:c.196-483A>G | ||
| ENST00000530715.5:c.186-874A>G | ENSP00000431395.1:n.186-874A>G | |
| ENST00000631044.2:c.*2015A>G | ENSP00000486730.1:n.*2015A>G | |
| NM_001126131.1:c.2591A>G | NP_001119603.1:p.Asn864Ser | |
| NM_002693.2:c.2591A>G | NP_002684.1:p.Asn864Ser | |
| NM_001126131.2:c.2591A>G | NP_001119603.1:p.Asn864Ser | |
| NM_002693.3:c.2591A>G MANE Select | NP_002684.1:p.Asn864Ser |