Linked Data
ClinVar Variation Id:
2589509
ClinVar RCV Id:
RCV004339081
dbSNP Id:
rs777601009
ExAC:
19:5691451 T / A
gnomAD v2:
19-5691451-T-A
gnomAD v3:
19-5691440-T-A
gnomAD v4:
19-5691440-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5691440T>A , CM000681.2:g.5691440T>A | GRCh38 |
| NC_000019.9:g.5691451T>A , CM000681.1:g.5691451T>A | GRCh37 |
| NC_000019.8:g.5642451T>A | NCBI36 |
| NG_017015.1:g.6180T>A | |
| NG_033142.1:g.34013A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347512.8:c.215T>A MANE Select | ENSP00000252543.3:p.Phe72Tyr | |
| ENST00000347512.7:c.215T>A | ENSP00000252543.3:p.Phe72Tyr | |
| ENST00000394580.2:c.215T>A | ENSP00000378081.2:p.Phe72Tyr | |
| ENST00000577222.5:c.215T>A | ENSP00000464342.1:p.Phe72Tyr | |
| ENST00000579446.1:c.215T>A | ENSP00000464613.1:p.Phe72Tyr | |
| ENST00000579649.5:c.215T>A | ENSP00000462609.1:p.Phe72Tyr | |
| NM_015414.3:c.215T>A | NP_056229.2:p.Phe72Tyr | |
| NM_033643.2:c.215T>A | NP_378669.1:p.Phe72Tyr | |
| NM_033643.3:c.215T>A MANE Select | NP_378669.1:p.Phe72Tyr | |
| NM_015414.4:c.215T>A | NP_056229.2:p.Phe72Tyr |