Linked Data
ClinVar Variation Id:
421703
dbSNP Id:
rs138190453
ExAC:
14:88895702 G / A
gnomAD v2:
14-88895702-G-A
gnomAD v3:
14-88429358-G-A
gnomAD v4:
14-88429358-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88429358G>A , CM000676.2:g.88429358G>A | GRCh38 |
| NC_000014.8:g.88895702G>A , CM000676.1:g.88895702G>A | GRCh37 |
| NC_000014.7:g.87965455G>A | NCBI36 |
| NG_021183.1:g.48715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.923G>A MANE Select | ENSP00000377176.4:p.Cys308Tyr | |
| ENST00000045347.11:c.923G>A | ENSP00000045347.7:p.Cys308Tyr | |
| ENST00000356583.9:c.827G>A | ENSP00000348991.5:p.Cys276Tyr | |
| ENST00000393545.8:c.923G>A | ENSP00000377176.4:p.Cys308Tyr | |
| ENST00000553626.5:n.2702G>A | ||
| ENST00000556553.5:c.827G>A | ENSP00000451128.1:p.Cys276Tyr | |
| ENST00000556666.5:n.1470G>A | ||
| NM_001040428.3:c.827G>A | NP_001035518.1:p.Cys276Tyr | |
| NM_018418.4:c.923G>A | NP_060888.2:p.Cys308Tyr | |
| XM_005267851.1:c.926G>A | XP_005267908.1:p.Cys309Tyr | |
| XM_005267852.1:c.830G>A | XP_005267909.1:p.Cys277Tyr | |
| XM_005267854.1:c.734G>A | XP_005267911.1:p.Cys245Tyr | |
| XM_005267855.1:c.734G>A | XP_005267912.1:p.Cys245Tyr | |
| XM_006720204.1:c.926G>A | XP_006720267.1:p.Cys309Tyr | |
| XM_006720205.1:c.926G>A | XP_006720268.1:p.Cys309Tyr | |
| XM_011536951.1:c.773G>A | XP_011535253.1:p.Cys258Tyr | |
| XM_011536952.1:c.755G>A | XP_011535254.1:p.Cys252Tyr | |
| XM_011536953.1:c.608G>A | XP_011535255.1:p.Cys203Tyr | |
| XM_005267852.2:c.830G>A | XP_005267909.1:p.Cys277Tyr | |
| XM_017021452.1:c.770G>A | XP_016876941.1:p.Cys257Tyr | |
| XM_017021453.1:c.734G>A | XP_016876942.1:p.Cys245Tyr | |
| XM_017021454.1:c.731G>A | XP_016876943.1:p.Cys244Tyr | |
| XM_017021455.1:c.731G>A | XP_016876944.1:p.Cys244Tyr | |
| XM_017021456.1:c.731G>A | XP_016876945.1:p.Cys244Tyr | |
| XM_017021457.1:c.605G>A | XP_016876946.1:p.Cys202Tyr | |
| XM_024449660.1:c.752G>A | XP_024305428.1:p.Cys251Tyr | |
| XR_002957563.1:n.994G>A | ||
| NM_018418.5:c.923G>A MANE Select | NP_060888.2:p.Cys308Tyr | |
| NM_001040428.4:c.827G>A | NP_001035518.1:p.Cys276Tyr |