Linked Data
ClinVar Variation Id:
1385790
ClinVar RCV Id:
RCV001888989
dbSNP Id:
rs1188916762
gnomAD v2:
15-28273026-G-A
gnomAD v3:
15-28027880-G-A
gnomAD v4:
15-28027880-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28027880G>A , CM000677.2:g.28027880G>A | GRCh38 |
| NC_000015.9:g.28273026G>A , CM000677.1:g.28273026G>A | GRCh37 |
| NC_000015.8:g.25946621G>A | NCBI36 |
| NG_009846.1:g.76433C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.506C>T MANE Select | ENSP00000346659.3:p.Ser169Phe | |
| ENST00000353809.9:c.506C>T | ENSP00000261276.8:p.Ser169Phe | |
| ENST00000354638.7:c.506C>T | ENSP00000346659.3:p.Ser169Phe | |
| ENST00000431101.1:c.506C>T | ENSP00000415431.1:p.Ser169Phe | |
| ENST00000445578.5:c.506C>T | ENSP00000414425.1:p.Ser169Phe | |
| NM_000275.2:c.506C>T | NP_000266.2:p.Ser169Phe | |
| NM_001300984.1:c.506C>T | NP_001287913.1:p.Ser169Phe | |
| XM_011521639.1:c.530C>T | XP_011519941.1:p.Ser177Phe | |
| XM_011521640.1:c.506C>T | XP_011519942.1:p.Ser169Phe | |
| XM_011521641.1:c.530C>T | XP_011519943.1:p.Ser177Phe | |
| XM_011521642.1:c.530C>T | XP_011519944.1:p.Ser177Phe | |
| XM_011521643.1:c.530C>T | XP_011519945.1:p.Ser177Phe | |
| XM_011521644.1:c.530C>T | XP_011519946.1:p.Ser177Phe | |
| XM_011521645.1:c.530C>T | XP_011519947.1:p.Ser177Phe | |
| XM_011521646.1:c.530C>T | XP_011519948.1:p.Ser177Phe | |
| XM_011521647.1:c.530C>T | XP_011519949.1:p.Ser177Phe | |
| XR_931843.1:n.1891C>T | ||
| XM_011521640.2:c.506C>T | XP_011519942.1:p.Ser169Phe | |
| XM_017022255.1:c.530C>T | XP_016877744.1:p.Ser177Phe | |
| XM_017022256.1:c.530C>T | XP_016877745.1:p.Ser177Phe | |
| XM_017022257.1:c.530C>T | XP_016877746.1:p.Ser177Phe | |
| XM_017022258.1:c.530C>T | XP_016877747.1:p.Ser177Phe | |
| XM_017022259.1:c.530C>T | XP_016877748.1:p.Ser177Phe | |
| XM_017022260.1:c.530C>T | XP_016877749.1:p.Ser177Phe | |
| XM_017022261.1:c.335C>T | XP_016877750.1:p.Ser112Phe | |
| XM_017022262.1:c.530C>T | XP_016877751.1:p.Ser177Phe | |
| XM_017022263.1:c.530C>T | XP_016877752.1:p.Ser177Phe | |
| XM_017022264.1:c.530C>T | XP_016877753.1:p.Ser177Phe | |
| XM_017022265.1:c.530C>T | XP_016877754.1:p.Ser177Phe | |
| XR_001751294.1:n.619C>T | ||
| NM_000275.3:c.506C>T MANE Select | NP_000266.2:p.Ser169Phe | |
| NM_001300984.2:c.506C>T | NP_001287913.1:p.Ser169Phe |