Linked Data
ClinVar Variation Id:
470757
dbSNP Id:
rs761724656
ExAC:
2:29541270 T / C
gnomAD v2:
2-29541270-T-C
gnomAD v3:
2-29318404-T-C
gnomAD v4:
2-29318404-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29318404T>C , CM000664.2:g.29318404T>C | GRCh38 |
| NC_000002.11:g.29541270T>C , CM000664.1:g.29541270T>C | GRCh37 |
| NC_000002.10:g.29394774T>C | NCBI36 |
| NG_009445.1:g.608163A>G , LRG_488:g.608163A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1547A>G MANE Select | ENSP00000373700.3:p.Asp516Gly | |
| ENST00000389048.7:c.1547A>G | ENSP00000373700.3:p.Asp516Gly | |
| ENST00000498037.1:n.102A>G | ||
| ENST00000618119.4:c.416A>G | ENSP00000482733.1:p.Asp139Gly | |
| NM_004304.4:c.1547A>G | NP_004295.2:p.Asp516Gly | |
| XR_001738688.2:n.2477A>G | ||
| NM_004304.5:c.1547A>G MANE Select | NP_004295.2:p.Asp516Gly |