Linked Data
ClinVar Variation Id:
414373
dbSNP Id:
rs10066882
ExAC:
5:148431783 C / A
gnomAD v2:
5-148431783-C-A
gnomAD v3:
5-149052220-C-A
gnomAD v4:
5-149052220-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149052220C>A , CM000667.2:g.149052220C>A | GRCh38 |
| NC_000005.9:g.148431783C>A , CM000667.1:g.148431783C>A | GRCh37 |
| NC_000005.8:g.148411976C>A | NCBI36 |
| NG_007947.2:g.15955G>T , LRG_269:g.15955G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.21G>T | ||
| ENST00000515425.6:c.73G>T MANE Select | ENSP00000423660.1:p.Asp25Tyr | |
| ENST00000674983.1:c.73G>T | ENSP00000502387.1:p.Asp25Tyr | |
| ENST00000675793.1:c.73G>T | ENSP00000502039.1:p.Asp25Tyr | |
| ENST00000676056.1:c.73G>T | ENSP00000501827.1:p.Asp25Tyr | |
| ENST00000323829.9:c.73G>T | ENSP00000313025.5:p.Asp25Tyr | |
| ENST00000504091.1:n.109G>T | ||
| ENST00000504690.5:c.73G>T | ENSP00000425627.1:p.Asp25Tyr | |
| ENST00000511307.5:c.73G>T | ENSP00000421420.1:p.Asp25Tyr | |
| ENST00000511949.5:n.113G>T | ||
| ENST00000512049.5:c.73G>T | ENSP00000421860.1:p.Asp25Tyr | |
| ENST00000513604.5:c.73G>T | ENSP00000423111.1:p.Asp25Tyr | |
| ENST00000515425.5:c.73G>T | ENSP00000423660.1:p.Asp25Tyr | |
| NM_024577.3:c.73G>T , LRG_269t1:c.73G>T | NP_078853.2:p.Asp25Tyr | |
| NM_024577.4:c.73G>T MANE Select | NP_078853.2:p.Asp25Tyr |