Linked Data
ClinVar Variation Id:
3056253
ClinVar RCV Id:
RCV003972309
dbSNP Id:
rs1799814
ExAC:
15:75012987 G / T
gnomAD v2:
15-75012987-G-T
gnomAD v3:
15-74720646-G-T
gnomAD v4:
15-74720646-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74720646G>T , CM000677.2:g.74720646G>T | GRCh38 |
| NC_000015.9:g.75012987G>T , CM000677.1:g.75012987G>T | GRCh37 |
| NC_000015.8:g.72800040G>T | NCBI36 |
| NG_008431.1:g.3105G>T | |
| NG_008431.2:g.3105G>T | |
| NG_061374.1:g.9883C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.1382C>A MANE Select | ENSP00000369050.3:p.Thr461Asn | |
| ENST00000379727.7:c.1382C>A | ENSP00000369050.3:p.Thr461Asn | |
| ENST00000395048.6:c.1382C>A | ENSP00000378488.2:p.Thr461Asn | |
| ENST00000395049.8:c.1295C>A | ENSP00000378489.4:p.Thr432Asn | |
| ENST00000567032.5:c.1382C>A | ENSP00000456585.1:p.Thr461Asn | |
| ENST00000612821.4:c.1298C>A | ENSP00000479744.1:p.Thr433Asn | |
| ENST00000617691.4:c.1295C>A | ENSP00000482863.1:p.Thr432Asn | |
| NM_000499.3:c.1382C>A | NP_000490.1:p.Thr461Asn | |
| XM_005254185.1:c.1382C>A | XP_005254242.1:p.Thr461Asn | |
| NM_000499.5:c.1382C>A | NP_000490.1:p.Thr461Asn | |
| NM_001319216.2:c.1295C>A | NP_001306145.1:p.Thr432Asn | |
| NM_001319217.2:c.1382C>A MANE Select | NP_001306146.1:p.Thr461Asn |