Linked Data
ClinVar Variation Id:
920687
dbSNP Id:
rs755825254
ExAC:
15:48737685 T / G
gnomAD v2:
15-48737685-T-G
gnomAD v3:
15-48445488-T-G
gnomAD v4:
15-48445488-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445488T>G , CM000677.2:g.48445488T>G | GRCh38 |
| NC_000015.9:g.48737685T>G , CM000677.1:g.48737685T>G | GRCh37 |
| NC_000015.8:g.46524977T>G | NCBI36 |
| NG_008805.2:g.205301A>C , LRG_778:g.205301A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5805A>C | ENSP00000453958.2:p.Ala1935= | |
| ENST00000674301.2:c.5805A>C | ENSP00000501333.2:p.Ala1935= | |
| ENST00000684448.1:n.4479A>C | ||
| ENST00000316623.10:c.5805A>C MANE Select | ENSP00000325527.5:p.Ala1935= | |
| ENST00000674301.1:c.804A>C | ENSP00000501333.1:p.Ala268= | |
| ENST00000316623.9:c.5805A>C | ENSP00000325527.5:p.Ala1935= | |
| ENST00000537463.6:c.*1568A>C | ENSP00000440294.2:n.*1568A>C | |
| ENST00000559133.5:c.1112A>C | ||
| NM_000138.4:c.5805A>C , LRG_778t1:c.5805A>C | NP_000129.3:p.Ala1935= | |
| NM_000138.5:c.5805A>C MANE Select | NP_000129.3:p.Ala1935= |