Linked Data
ClinVar Variation Id:
100530
dbSNP Id:
rs199469628
ExAC:
5:136975551 G / A
gnomAD v2:
5-136975551-G-A
gnomAD v4:
5-137639862-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137639862G>A , CM000667.2:g.137639862G>A | GRCh38 |
| NC_000005.9:g.136975551G>A , CM000667.1:g.136975551G>A | GRCh37 |
| NC_000005.8:g.137003450G>A | NCBI36 |
| NG_032569.1:g.101229C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309755.9:c.1019C>T MANE Select | ENSP00000312397.4:p.Ala340Val | |
| ENST00000309755.8:c.1019C>T | ENSP00000312397.4:p.Ala340Val | |
| ENST00000502381.1:n.606C>T | ||
| ENST00000504208.5:c.*335-11425C>T | ENSP00000423585.1:n.*335-11425C>T | |
| ENST00000505853.1:c.899C>T | ENSP00000426173.1:p.Ala300Val | |
| ENST00000506491.5:c.773C>T | ENSP00000424828.1:p.Ala258Val | |
| ENST00000506873.5:n.644C>T | ||
| ENST00000508657.5:c.923C>T | ENSP00000422099.1:p.Ala308Val | |
| NM_001257194.1:c.923C>T | NP_001244123.1:p.Ala308Val | |
| NM_001257195.1:c.773C>T | NP_001244124.1:p.Ala258Val | |
| NM_017415.2:c.1019C>T | NP_059111.2:p.Ala340Val | |
| NM_017415.3:c.1019C>T MANE Select | NP_059111.2:p.Ala340Val | |
| NM_001257195.2:c.773C>T | NP_001244124.1:p.Ala258Val |