Linked Data
ClinVar Variation Id:
1663127
ClinVar RCV Id:
RCV002188330
dbSNP Id:
rs535845172
gnomAD v3:
4-1815778-C-T
gnomAD v4:
4-1815778-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1815778C>T , CM000666.2:g.1815778C>T | GRCh38 |
| NC_000004.11:g.1817505C>T , CM000666.1:g.1817505C>T | GRCh37 |
| NC_000004.10:g.1787303C>T | NCBI36 |
| NG_013063.1:g.45470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.1956G>A MANE Select | ENSP00000305653.2:p.Glu652= | |
| ENST00000302787.2:c.1956G>A | ENSP00000305653.2:p.Glu652= | |
| NM_012318.2:c.1956G>A | NP_036450.1:p.Glu652= | |
| XM_005247970.3:c.1041G>A | XP_005248027.1:p.Glu347= | |
| XM_006713884.1:c.1953G>A | XP_006713947.1:p.Glu651= | |
| NM_012318.3:c.1956G>A MANE Select | NP_036450.1:p.Glu652= |