Linked Data
ClinVar Variation Id:
1752825
ClinVar RCV Id:
RCV002368853
dbSNP Id:
rs767987311
ExAC:
11:67257671 A / T
gnomAD v2:
11-67257671-A-T
gnomAD v4:
11-67490200-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490200A>T , CM000673.2:g.67490200A>T | GRCh38 |
| NC_000011.9:g.67257671A>T , CM000673.1:g.67257671A>T | GRCh37 |
| NC_000011.8:g.67014247A>T | NCBI36 |
| NG_008969.1:g.12167A>T , LRG_460:g.12167A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.608A>T | ||
| ENST00000528641.7:c.442A>T | ENSP00000434982.3:p.Asn148Tyr | |
| ENST00000529797.2:n.1143A>T | ||
| ENST00000682324.1:c.468+745A>T | ENSP00000508017.1:n.468+745A>T | |
| ENST00000682659.1:c.262A>T | ENSP00000507351.1:p.Asn88Tyr | |
| ENST00000682699.1:c.631A>T | ENSP00000507935.1:p.Asn211Tyr | |
| ENST00000683237.1:c.631A>T | ENSP00000507343.1:p.Asn211Tyr | |
| ENST00000683856.1:c.454A>T | ENSP00000507979.1:p.Asn152Tyr | |
| ENST00000684006.1:c.631A>T | ENSP00000507269.1:p.Asn211Tyr | |
| ENST00000684657.1:c.451A>T | ENSP00000507961.1:p.Asn151Tyr | |
| ENST00000279146.8:c.631A>T MANE Select | ENSP00000279146.3:p.Asn211Tyr | |
| ENST00000279146.7:c.631A>T | ENSP00000279146.3:p.Asn211Tyr | |
| ENST00000525341.1:c.283A>T | ENSP00000476993.1:p.Asn95Tyr | |
| ENST00000528641.6:c.442A>T | ENSP00000434982.2:p.Asn148Tyr | |
| NM_001302959.1:c.454A>T | NP_001289888.1:p.Asn152Tyr | |
| NM_001302960.1:c.631A>T | NP_001289889.1:p.Asn211Tyr | |
| NM_003977.3:c.631A>T | NP_003968.3:p.Asn211Tyr | |
| XM_024448761.1:c.631A>T | XP_024304529.1:p.Asn211Tyr | |
| NM_003977.4:c.631A>T MANE Select | NP_003968.3:p.Asn211Tyr | |
| NM_001302960.2:c.631A>T | NP_001289889.1:p.Asn211Tyr | |
| NM_001302959.2:c.454A>T | NP_001289888.1:p.Asn152Tyr |