Linked Data
ClinVar Variation Id:
1217373
dbSNP Id:
rs11540994
ExAC:
16:58575489 G / A
gnomAD v2:
16-58575489-G-A
gnomAD v3:
16-58541585-G-A
gnomAD v4:
16-58541585-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58541585G>A , CM000678.2:g.58541585G>A | GRCh38 |
| NC_000016.9:g.58575489G>A , CM000678.1:g.58575489G>A | GRCh37 |
| NC_000016.8:g.57132990G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317147.10:c.4716C>T MANE Select | ENSP00000320949.5:p.Tyr1572= | |
| ENST00000317147.9:c.4716C>T | ENSP00000320949.5:p.Tyr1572= | |
| ENST00000567188.5:c.4701C>T | ENSP00000456649.1:p.Tyr1567= | |
| ENST00000569240.5:c.4701C>T | ENSP00000455635.1:p.Tyr1567= | |
| NM_001265612.1:c.4701C>T | NP_001252541.1:p.Tyr1567= | |
| NM_016284.4:c.4716C>T | NP_057368.3:p.Tyr1572= | |
| NR_049763.1:n.5034C>T | ||
| NM_016284.5:c.4716C>T MANE Select | NP_057368.3:p.Tyr1572= | |
| NM_001265612.2:c.4701C>T | NP_001252541.1:p.Tyr1567= | |
| NR_049763.2:n.4974C>T |