Linked Data
ClinVar Variation Id:
1268691
ClinVar RCV Id:
RCV001679796
dbSNP Id:
rs950169
ExAC:
15:84706461 C / T
gnomAD v2:
15-84706461-C-T
gnomAD v3:
15-84037709-C-T
gnomAD v4:
15-84037709-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84037709C>T , CM000677.2:g.84037709C>T | GRCh38 |
| NC_000015.9:g.84706461C>T , CM000677.1:g.84706461C>T | GRCh37 |
| NC_000015.8:g.82497465C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286744.10:c.4979C>T MANE Select | ENSP00000286744.5:p.Thr1660Ile | |
| ENST00000286744.9:c.4979C>T | ENSP00000286744.5:p.Thr1660Ile | |
| ENST00000567476.1:c.4987-54C>T | ENSP00000456313.1:n.4987-54C>T | |
| NM_001301110.1:c.4987-54C>T | NP_001288039.1:n.4987-54C>T | |
| NM_207517.2:c.4979C>T | NP_997400.2:p.Thr1660Ile | |
| XM_011521821.1:c.5068-54C>T | XP_011520123.1:n.5068-54C>T | |
| XM_011521822.1:c.5060C>T | XP_011520124.1:p.Thr1687Ile | |
| XM_011521823.1:c.5077C>T | XP_011520125.1:p.Gln1693Ter | |
| XM_011521824.1:c.5051-54C>T | XP_011520126.1:n.5051-54C>T | |
| XM_011521822.2:c.5060C>T | XP_011520124.1:p.Thr1687Ile | |
| XM_011521823.2:c.5077C>T | XP_011520125.1:p.Gln1693Ter | |
| XM_011521824.2:c.5051-54C>T | XP_011520126.1:n.5051-54C>T | |
| XM_017022434.1:c.5068-54C>T | XP_016877923.1:n.5068-54C>T | |
| XM_017022435.1:c.4484C>T | XP_016877924.1:p.Thr1495Ile | |
| NM_207517.3:c.4979C>T MANE Select | NP_997400.2:p.Thr1660Ile | |
| NM_001301110.2:c.4987-54C>T | NP_001288039.1:n.4987-54C>T |