Linked Data
ClinVar Variation Id:
2093275
ClinVar RCV Id:
RCV003018638
dbSNP Id:
rs769932022
ExAC:
3:58512231 G / A
gnomAD v2:
3-58512231-G-A
gnomAD v4:
3-58526504-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58526504G>A , CM000665.2:g.58526504G>A | GRCh38 |
| NC_000003.11:g.58512231G>A , CM000665.1:g.58512231G>A | GRCh37 |
| NC_000003.10:g.58487271G>A | NCBI36 |
| NG_052668.1:g.15699C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302819.10:c.1308C>T MANE Select | ENSP00000307697.5:p.Tyr436= | |
| ENST00000302819.9:c.1308C>T | ENSP00000307697.5:p.Tyr436= | |
| ENST00000459701.6:c.1266C>T | ENSP00000418562.2:p.Tyr422= | |
| ENST00000467738.1:n.246C>T | ||
| ENST00000489472.1:c.687C>T | ENSP00000418515.1:n.687C>T | |
| NM_003500.3:c.1308C>T | NP_003491.1:p.Tyr436= | |
| XM_005265505.1:c.1308C>T | XP_005265562.1:p.Tyr436= | |
| XM_005265506.2:c.1098C>T | XP_005265563.1:p.Tyr366= | |
| XM_006713340.2:c.1014C>T | XP_006713403.1:p.Tyr338= | |
| XM_011534147.1:c.1473C>T | XP_011532449.1:p.Tyr491= | |
| XM_011534148.1:c.1014C>T | XP_011532450.1:p.Tyr338= | |
| XM_006713340.3:c.1014C>T | XP_006713403.1:p.Tyr338= | |
| XM_017007302.2:c.1098C>T | XP_016862791.1:p.Tyr366= | |
| XM_024453786.1:c.1098C>T | XP_024309554.1:p.Tyr366= | |
| NM_003500.4:c.1308C>T MANE Select | NP_003491.1:p.Tyr436= |