Linked Data
ClinVar Variation Id:
1375186
dbSNP Id:
rs192187328
ExAC:
5:148406189 T / G
gnomAD v2:
5-148406189-T-G
gnomAD v3:
5-149026626-T-G
gnomAD v4:
5-149026626-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149026626T>G , CM000667.2:g.149026626T>G | GRCh38 |
| NC_000005.9:g.148406189T>G , CM000667.1:g.148406189T>G | GRCh37 |
| NC_000005.8:g.148386382T>G | NCBI36 |
| NG_007947.2:g.41549A>C , LRG_269:g.41549A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.2895A>C | ||
| ENST00000515425.6:c.2999A>C MANE Select | ENSP00000423660.1:p.Glu1000Ala | |
| ENST00000675793.1:c.*2283A>C | ENSP00000502039.1:n.*2283A>C | |
| ENST00000676056.1:c.*2509A>C | ENSP00000501827.1:n.*2509A>C | |
| ENST00000323829.9:c.*2387A>C | ENSP00000313025.5:n.*2387A>C | |
| ENST00000504517.5:c.2529A>C | ENSP00000421779.1:n.2529A>C | |
| ENST00000504690.5:c.2999A>C | ENSP00000425627.1:p.Glu1000Ala | |
| ENST00000510779.1:c.2049A>C | ||
| ENST00000511307.5:c.*2886A>C | ENSP00000421420.1:n.*2886A>C | |
| ENST00000512049.5:c.2978A>C | ENSP00000421860.1:p.Glu993Ala | |
| ENST00000513604.5:c.*2494A>C | ENSP00000423111.1:n.*2494A>C | |
| ENST00000515425.5:c.2999A>C | ENSP00000423660.1:p.Glu1000Ala | |
| NM_024577.3:c.2999A>C , LRG_269t1:c.2999A>C | NP_078853.2:p.Glu1000Ala | |
| NM_024577.4:c.2999A>C MANE Select | NP_078853.2:p.Glu1000Ala |