Linked Data
ClinVar Variation Id:
733287
ClinVar RCV Id:
RCV000908551
dbSNP Id:
rs748250467
ExAC:
4:1816244 C / T
gnomAD v2:
4-1816244-C-T
gnomAD v4:
4-1814517-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1814517C>T , CM000666.2:g.1814517C>T | GRCh38 |
| NC_000004.11:g.1816244C>T , CM000666.1:g.1816244C>T | GRCh37 |
| NC_000004.10:g.1786042C>T | NCBI36 |
| NG_013063.1:g.46731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.2127G>A MANE Select | ENSP00000305653.2:p.Glu709= | |
| ENST00000302787.2:c.2127G>A | ENSP00000305653.2:p.Glu709= | |
| NM_012318.2:c.2127G>A | NP_036450.1:p.Glu709= | |
| XM_005247970.3:c.1212G>A | XP_005248027.1:p.Glu404= | |
| XM_006713884.1:c.2124G>A | XP_006713947.1:p.Glu708= | |
| NM_012318.3:c.2127G>A MANE Select | NP_036450.1:p.Glu709= |