Linked Data
ClinVar Variation Id:
1047354
dbSNP Id:
rs139459124
gnomAD v2:
X-73963707-C-A
gnomAD v3:
X-74743872-C-A
gnomAD v4:
X-74743872-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74743872C>A , CM000685.2:g.74743872C>A | GRCh38 |
| NC_000023.10:g.73963707C>A , CM000685.1:g.73963707C>A | GRCh37 |
| NC_000023.9:g.73880432C>A | NCBI36 |
| NG_027726.1:g.186581G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000055682.12:c.685G>T MANE Select | ENSP00000055682.5:p.Asp229Tyr | |
| ENST00000616200.2:c.685G>T | ENSP00000480284.1:p.Asp229Tyr | |
| ENST00000642681.2:c.685G>T | ENSP00000495800.1:p.Asp229Tyr | |
| ENST00000055682.10:c.685G>T | ENSP00000055682.5:p.Asp229Tyr | |
| ENST00000616200.1:c.685G>T | ENSP00000480284.1:p.Asp229Tyr | |
| NM_001008537.2:c.685G>T | NP_001008537.1:p.Asp229Tyr | |
| XM_011530935.1:c.685G>T | XP_011529237.1:p.Asp229Tyr | |
| NM_001008537.3:c.685G>T MANE Select | NP_001008537.1:p.Asp229Tyr |