Linked Data
dbSNP Id:
rs1439853845
gnomAD v2:
14-88442788-T-A
gnomAD v3:
14-87976444-T-A
gnomAD v4:
14-87976444-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87976444T>A , CM000676.2:g.87976444T>A | GRCh38 |
| NC_000014.8:g.88442788T>A , CM000676.1:g.88442788T>A | GRCh37 |
| NC_000014.7:g.87512541T>A | NCBI36 |
| NG_011853.2:g.22120A>T | |
| NG_011853.3:g.22120A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.666A>T MANE Select | ENSP00000261304.2:p.Lys222Asn | |
| ENST00000261304.6:c.666A>T | ENSP00000261304.2:p.Lys222Asn | |
| ENST00000393568.8:c.597A>T | ENSP00000377198.4:p.Lys199Asn | |
| ENST00000393569.6:c.588A>T | ENSP00000377199.2:p.Lys196Asn | |
| ENST00000474294.6:n.656A>T | ||
| ENST00000477716.3:n.421A>T | ||
| ENST00000544807.6:c.498A>T | ENSP00000437513.2:p.Lys166Asn | |
| ENST00000554916.5:n.545A>T | ||
| ENST00000555000.5:c.33A>T | ENSP00000450472.1:p.Lys11Asn | |
| ENST00000557316.5:c.*64A>T | ENSP00000452314.1:n.*64A>T | |
| ENST00000622264.4:c.656A>T | ||
| NM_000153.3:c.666A>T | NP_000144.2:p.Lys222Asn | |
| NM_001201401.1:c.597A>T | NP_001188330.1:p.Lys199Asn | |
| NM_001201402.1:c.588A>T | NP_001188331.1:p.Lys196Asn | |
| XM_011536618.1:c.498A>T | XP_011534920.1:p.Lys166Asn | |
| XM_011536618.2:c.498A>T | XP_011534920.1:p.Lys166Asn | |
| NM_000153.4:c.666A>T MANE Select | NP_000144.2:p.Lys222Asn | |
| NM_001201401.2:c.597A>T | NP_001188330.1:p.Lys199Asn | |
| NM_001201402.2:c.588A>T | NP_001188331.1:p.Lys196Asn |