Linked Data
ClinVar Variation Id:
492317
dbSNP Id:
rs1295420243
gnomAD v2:
10-89725154-T-C
gnomAD v4:
10-87965397-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87965397T>C , CM000672.2:g.87965397T>C | GRCh38 |
| NC_000010.10:g.89725154T>C , CM000672.1:g.89725154T>C | GRCh37 |
| NC_000010.9:g.89715134T>C | NCBI36 |
| NG_007466.2:g.106959T>C , LRG_311:g.106959T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1230T>C | ENSP00000514759.2:p.Tyr410= | |
| ENST00000710265.1:c.*166T>C | ENSP00000518161.1:n.*166T>C | |
| ENST00000688158.2:n.1872T>C | ||
| ENST00000688922.2:c.*967T>C | ENSP00000508742.2:n.*967T>C | |
| ENST00000700021.1:c.1092T>C | ENSP00000514757.1:p.Tyr364= | |
| ENST00000700022.1:c.*476T>C | ENSP00000514758.1:n.*476T>C | |
| ENST00000700023.1:n.2295T>C | ||
| ENST00000700024.1:n.2529T>C | ||
| ENST00000706954.1:c.1137T>C | ENSP00000516674.1:p.Tyr379= | |
| ENST00000706955.1:c.*1172T>C | ENSP00000516675.1:n.*1172T>C | |
| ENST00000686459.1:c.*723T>C | ENSP00000508909.1:n.*723T>C | |
| ENST00000688158.1:c.*1248T>C | ENSP00000509254.1:n.*1248T>C | |
| ENST00000688308.1:c.1137T>C | ENSP00000508752.1:p.Tyr379= | |
| ENST00000688922.1:c.1058T>C | ||
| ENST00000693560.1:c.1656T>C | ENSP00000509861.1:p.Tyr552= | |
| ENST00000371953.8:c.1137T>C MANE Select | ENSP00000361021.3:p.Tyr379= | |
| ENST00000371953.7:c.1137T>C | ENSP00000361021.3:p.Tyr379= | |
| NM_000314.5:c.1137T>C | NP_000305.3:p.Tyr379= | |
| NM_000314.6:c.1137T>C | NP_000305.3:p.Tyr379= | |
| NM_001304717.2:c.1656T>C | NP_001291646.2:p.Tyr552= | |
| NM_001304718.1:c.546T>C | NP_001291647.1:p.Tyr182= | |
| XM_006717926.2:c.1092T>C | XP_006717989.1:p.Tyr364= | |
| XM_011539982.1:c.1041T>C | XP_011538284.1:p.Tyr347= | |
| XR_945791.1:n.1707T>C | ||
| NM_000314.7:c.1137T>C | NP_000305.3:p.Tyr379= | |
| NM_001304717.5:c.1656T>C | NP_001291646.4:p.Tyr552= | |
| NM_001304718.2:c.546T>C | NP_001291647.1:p.Tyr182= | |
| NM_000314.8:c.1137T>C MANE Select | NP_000305.3:p.Tyr379= |