Linked Data
ClinVar Variation Id:
459879
dbSNP Id:
rs367656336
ExAC:
2:73680291 G / T
gnomAD v2:
2-73680291-G-T
gnomAD v3:
2-73453164-G-T
gnomAD v4:
2-73453164-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73453164G>T , CM000664.2:g.73453164G>T | GRCh38 |
| NC_000002.11:g.73680291G>T , CM000664.1:g.73680291G>T | GRCh37 |
| NC_000002.10:g.73533799G>T | NCBI36 |
| NG_011690.1:g.72412G>T , LRG_741:g.72412G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.6256G>T | ENSP00000507671.1:p.Asp2086Tyr | |
| ENST00000682801.1:c.6256G>T | ENSP00000507862.1:p.Asp2086Tyr | |
| ENST00000682859.1:c.6256G>T | ENSP00000508222.1:p.Asp2086Tyr | |
| ENST00000683791.1:c.685+20873G>T | ||
| ENST00000684197.1:n.1606G>T | ||
| ENST00000684460.1:c.3708G>T | ||
| ENST00000684548.1:c.6256G>T | ENSP00000507421.1:p.Asp2086Tyr | |
| ENST00000684590.1:c.754G>T | ENSP00000507376.1:p.Asp252Tyr | |
| ENST00000684656.1:c.3708G>T | ||
| ENST00000613296.6:c.6637G>T MANE Select | ENSP00000482968.1:p.Asp2213Tyr | |
| ENST00000423048.5:c.1468G>T | ENSP00000399833.1:p.Asp490Tyr | |
| ENST00000484298.5:c.6511G>T | ENSP00000478155.1:p.Asp2171Tyr | |
| ENST00000613296.4:c.6637G>T | ENSP00000482968.1:p.Asp2213Tyr | |
| ENST00000614410.4:c.6637G>T | ENSP00000479094.1:p.Asp2213Tyr | |
| ENST00000620466.4:n.440G>T | ||
| NM_015120.4:c.6640G>T , LRG_741t1:c.6640G>T | NP_055935.4:p.Asp2214Tyr | |
| NM_001378454.1:c.6637G>T MANE Select | NP_001365383.1:p.Asp2213Tyr |