Linked Data
dbSNP Id:
rs774580967
ExAC:
11:86017322 A / T
gnomAD v2:
11-86017322-A-T
gnomAD v4:
11-86306280-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86306280A>T , CM000673.2:g.86306280A>T | GRCh38 |
| NC_000011.9:g.86017322A>T , CM000673.1:g.86017322A>T | GRCh37 |
| NC_000011.8:g.85694970A>T | NCBI36 |
| NG_046865.1:g.9070A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278483.8:c.66A>T MANE Select | ENSP00000278483.3:p.Lys22Asn | |
| ENST00000278483.7:c.66A>T | ENSP00000278483.3:p.Lys22Asn | |
| ENST00000528004.5:c.66A>T | ENSP00000433815.1:p.Lys22Asn | |
| ENST00000530208.1:n.141A>T | ||
| ENST00000531485.5:n.236+3802A>T | ||
| ENST00000532270.5:n.405A>T | ||
| ENST00000533986.5:c.66A>T | ENSP00000432699.1:p.Lys22Asn | |
| NM_016401.3:c.66A>T | NP_057485.2:p.Lys22Asn | |
| NR_024596.1:n.141A>T | ||
| NR_024597.1:n.268+3802A>T | ||
| NR_024598.1:n.268+3802A>T | ||
| XM_011545097.1:c.-52A>T | XP_011543399.1:n.-52A>T | |
| XR_949963.1:n.289A>T | ||
| NM_001322404.1:c.66A>T | NP_001309333.1:p.Lys22Asn | |
| NM_001322407.1:c.-52A>T | NP_001309336.1:n.-52A>T | |
| NM_001322409.1:c.-52A>T | NP_001309338.1:n.-52A>T | |
| NR_136324.1:n.288A>T | ||
| XM_017017914.2:c.66A>T | XP_016873403.1:p.Lys22Asn | |
| XM_017017915.1:c.-52A>T | XP_016873404.1:n.-52A>T | |
| XR_001747904.2:n.275A>T | ||
| XR_949963.3:n.275A>T | ||
| NM_016401.4:c.66A>T MANE Select | NP_057485.2:p.Lys22Asn | |
| NM_001322404.2:c.66A>T | NP_001309333.1:p.Lys22Asn | |
| NM_001322407.2:c.-52A>T | NP_001309336.1:n.-52A>T | |
| NM_001322409.2:c.-52A>T | NP_001309338.1:n.-52A>T | |
| NR_024597.2:n.239+3802A>T | ||
| NR_024598.2:n.239+3802A>T | ||
| NR_136324.2:n.275A>T |