Linked Data
ClinVar Variation Id:
391621
dbSNP Id:
rs780972853
ExAC:
15:48779557 C / G
gnomAD v2:
15-48779557-C-G
gnomAD v3:
15-48487360-C-G
gnomAD v4:
15-48487360-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48487360C>G , CM000677.2:g.48487360C>G | GRCh38 |
| NC_000015.9:g.48779557C>G , CM000677.1:g.48779557C>G | GRCh37 |
| NC_000015.8:g.46566849C>G | NCBI36 |
| NG_008805.2:g.163429G>C , LRG_778:g.163429G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3415G>C | ENSP00000453958.2:p.Glu1139Gln | |
| ENST00000674301.2:c.3415G>C | ENSP00000501333.2:p.Glu1139Gln | |
| ENST00000684448.1:n.2089G>C | ||
| ENST00000316623.10:c.3415G>C MANE Select | ENSP00000325527.5:p.Glu1139Gln | |
| ENST00000316623.9:c.3415G>C | ENSP00000325527.5:p.Glu1139Gln | |
| ENST00000537463.6:c.637-12710G>C | ENSP00000440294.2:n.637-12710G>C | |
| NM_000138.4:c.3415G>C , LRG_778t1:c.3415G>C | NP_000129.3:p.Glu1139Gln | |
| NM_000138.5:c.3415G>C MANE Select | NP_000129.3:p.Glu1139Gln |