Linked Data
ClinVar Variation Id:
381669
dbSNP Id:
rs373979283
ExAC:
5:74009355 T / G
gnomAD v2:
5-74009355-T-G
gnomAD v3:
5-74713530-T-G
gnomAD v4:
5-74713530-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74713530T>G , CM000667.2:g.74713530T>G | GRCh38 |
| NC_000005.9:g.74009355T>G , CM000667.1:g.74009355T>G | GRCh37 |
| NC_000005.8:g.74045111T>G | NCBI36 |
| NG_009770.1:g.33387T>G | |
| NG_009770.2:g.78508T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.796T>G MANE Select | ENSP00000261416.7:p.Tyr266Asp | |
| ENST00000261416.11:c.796T>G | ENSP00000261416.7:p.Tyr266Asp | |
| ENST00000511181.5:c.121T>G | ENSP00000426285.1:p.Tyr41Asp | |
| NM_000521.3:c.796T>G | NP_000512.1:p.Tyr266Asp | |
| NM_001292004.1:c.121T>G | NP_001278933.1:p.Tyr41Asp | |
| NM_000521.4:c.796T>G MANE Select | NP_000512.2:p.Tyr266Asp | |
| NM_001292004.2:c.121T>G | NP_001278933.1:p.Tyr41Asp |