Linked Data
dbSNP Id:
rs747884990
ExAC:
1:26650666 C / T
gnomAD v2:
1-26650666-C-T
gnomAD v3:
1-26324175-C-T
gnomAD v4:
1-26324175-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26324175C>T , CM000663.2:g.26324175C>T | GRCh38 |
| NC_000001.10:g.26650666C>T , CM000663.1:g.26650666C>T | GRCh37 |
| NC_000001.9:g.26523253C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308182.10:c.4714G>A MANE Select | ENSP00000310435.6:p.Glu1572Lys | |
| ENST00000475866.3:c.5686G>A | ENSP00000428746.2:p.Glu1896Lys | |
| ENST00000308182.9:c.4714G>A | ENSP00000310435.6:p.Glu1572Lys | |
| ENST00000374208.1:n.192G>A | ||
| ENST00000374211.5:n.328G>A | ||
| ENST00000527815.5:c.2092G>A | ENSP00000433931.1:p.Glu698Lys | |
| NM_001039775.3:c.4714G>A | NP_001034864.2:p.Glu1572Lys | |
| XM_005245918.2:c.4714G>A | XP_005245975.1:p.Glu1572Lys | |
| XM_011541672.1:c.4678G>A | XP_011539974.1:p.Glu1560Lys | |
| XM_011541673.1:c.4885G>A | XP_011539975.1:p.Glu1629Lys | |
| XR_946681.1:n.5178G>A | ||
| XM_011541673.2:c.4885G>A | XP_011539975.1:p.Glu1629Lys | |
| XR_001737260.1:n.4737G>A | ||
| NM_001039775.4:c.4714G>A MANE Select | NP_001034864.2:p.Glu1572Lys |