Linked Data
ClinVar Variation Id:
1520384
dbSNP Id:
rs969728952
gnomAD v3:
11-67490202-C-A
gnomAD v4:
11-67490202-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490202C>A , CM000673.2:g.67490202C>A | GRCh38 |
| NC_000011.9:g.67257673C>A , CM000673.1:g.67257673C>A | GRCh37 |
| NC_000011.8:g.67014249C>A | NCBI36 |
| NG_008969.1:g.12169C>A , LRG_460:g.12169C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.610C>A | ||
| ENST00000528641.7:c.444C>A | ENSP00000434982.3:p.Asn148Lys | |
| ENST00000529797.2:n.1145C>A | ||
| ENST00000682324.1:c.468+747C>A | ENSP00000508017.1:n.468+747C>A | |
| ENST00000682659.1:c.264C>A | ENSP00000507351.1:p.Asn88Lys | |
| ENST00000682699.1:c.633C>A | ENSP00000507935.1:p.Asn211Lys | |
| ENST00000683237.1:c.633C>A | ENSP00000507343.1:p.Asn211Lys | |
| ENST00000683856.1:c.456C>A | ENSP00000507979.1:p.Asn152Lys | |
| ENST00000684006.1:c.633C>A | ENSP00000507269.1:p.Asn211Lys | |
| ENST00000684657.1:c.453C>A | ENSP00000507961.1:p.Asn151Lys | |
| ENST00000279146.8:c.633C>A MANE Select | ENSP00000279146.3:p.Asn211Lys | |
| ENST00000279146.7:c.633C>A | ENSP00000279146.3:p.Asn211Lys | |
| ENST00000525341.1:c.285C>A | ENSP00000476993.1:p.Asn95Lys | |
| ENST00000528641.6:c.444C>A | ENSP00000434982.2:p.Asn148Lys | |
| NM_001302959.1:c.456C>A | NP_001289888.1:p.Asn152Lys | |
| NM_001302960.1:c.633C>A | NP_001289889.1:p.Asn211Lys | |
| NM_003977.3:c.633C>A | NP_003968.3:p.Asn211Lys | |
| XM_024448761.1:c.633C>A | XP_024304529.1:p.Asn211Lys | |
| NM_003977.4:c.633C>A MANE Select | NP_003968.3:p.Asn211Lys | |
| NM_001302960.2:c.633C>A | NP_001289889.1:p.Asn211Lys | |
| NM_001302959.2:c.456C>A | NP_001289888.1:p.Asn152Lys |