Linked Data
ClinVar Variation Id:
485069
ClinVar RCV Id:
RCV000567508
dbSNP Id:
rs1390104426
gnomAD v2:
11-67258434-A-T
gnomAD v4:
11-67490963-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490963A>T , CM000673.2:g.67490963A>T | GRCh38 |
| NC_000011.9:g.67258434A>T , CM000673.1:g.67258434A>T | GRCh37 |
| NC_000011.8:g.67015010A>T | NCBI36 |
| NG_008969.1:g.12930A>T , LRG_460:g.12930A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.1270A>T | ||
| ENST00000528641.7:c.774A>T | ENSP00000434982.3:p.Lys258Asn | |
| ENST00000529797.2:n.1805A>T | ||
| ENST00000682324.1:c.469-34A>T | ENSP00000508017.1:n.469-34A>T | |
| ENST00000682659.1:c.594A>T | ENSP00000507351.1:p.Lys198Asn | |
| ENST00000683237.1:c.*103A>T | ENSP00000507343.1:n.*103A>T | |
| ENST00000683856.1:c.786A>T | ENSP00000507979.1:p.Lys262Asn | |
| ENST00000684006.1:c.*103A>T | ENSP00000507269.1:n.*103A>T | |
| ENST00000684657.1:c.783A>T | ENSP00000507961.1:p.Lys261Asn | |
| ENST00000279146.8:c.963A>T MANE Select | ENSP00000279146.3:p.Lys321Asn | |
| ENST00000279146.7:c.963A>T | ENSP00000279146.3:p.Lys321Asn | |
| NM_001302959.1:c.786A>T | NP_001289888.1:p.Lys262Asn | |
| NM_001302960.1:c.*103A>T | NP_001289889.1:n.*103A>T | |
| NM_003977.3:c.963A>T | NP_003968.3:p.Lys321Asn | |
| XM_024448761.1:c.963A>T | XP_024304529.1:p.Lys321Asn | |
| NM_003977.4:c.963A>T MANE Select | NP_003968.3:p.Lys321Asn | |
| NM_001302960.2:c.*103A>T | NP_001289889.1:n.*103A>T | |
| NM_001302959.2:c.786A>T | NP_001289888.1:p.Lys262Asn |