Linked Data
dbSNP Id:
rs779801611
ExAC:
15:89424651 A / T
gnomAD v2:
15-89424651-A-T
gnomAD v4:
15-88881420-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88881420A>T , CM000677.2:g.88881420A>T | GRCh38 |
| NC_000015.9:g.89424651A>T , CM000677.1:g.89424651A>T | GRCh37 |
| NC_000015.8:g.87225655A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359595.8:c.430T>A MANE Select | ENSP00000352606.4:p.Tyr144Asn | |
| ENST00000359595.7:c.430T>A | ENSP00000352606.3:p.Tyr144Asn | |
| ENST00000558770.5:c.430T>A | ENSP00000456458.1:p.Tyr144Asn | |
| ENST00000562281.1:c.430T>A | ENSP00000456985.1:p.Tyr144Asn | |
| ENST00000562889.5:c.616T>A | ENSP00000457180.1:p.Tyr206Asn | |
| ENST00000563808.1:n.532T>A | ||
| NM_001307952.1:c.616T>A | NP_001294881.1:p.Tyr206Asn | |
| NM_178232.2:c.430T>A | NP_839946.1:p.Tyr144Asn | |
| NM_178232.3:c.430T>A | NP_839946.1:p.Tyr144Asn | |
| XM_011521261.1:c.562T>A | XP_011519563.1:p.Tyr188Asn | |
| XR_243204.1:n.645T>A | ||
| XR_931756.1:n.751T>A | ||
| XM_017021934.2:c.616T>A | XP_016877423.1:p.Tyr206Asn | |
| XM_017021935.2:c.51T>A | XP_016877424.1:p.Val17= | |
| XM_017021936.2:c.51T>A | XP_016877425.1:p.Val17= | |
| XR_001751098.2:n.763T>A | ||
| XR_931756.3:n.764T>A | ||
| NM_001307952.2:c.616T>A | NP_001294881.1:p.Tyr206Asn | |
| NM_178232.4:c.430T>A MANE Select | NP_839946.1:p.Tyr144Asn |