Linked Data
dbSNP Id:
rs564652305
ExAC:
7:30491774 G / T
gnomAD v2:
7-30491774-G-T
gnomAD v3:
7-30452158-G-T
gnomAD v4:
7-30452158-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30452158G>T , CM000669.2:g.30452158G>T | GRCh38 |
| NC_000007.13:g.30491774G>T , CM000669.1:g.30491774G>T | GRCh37 |
| NC_000007.12:g.30458299G>T | NCBI36 |
| NG_013025.1:g.31620C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222823.9:c.1259C>A MANE Select | ENSP00000222823.4:p.Thr420Asn | |
| ENST00000222823.8:c.1259C>A | ENSP00000222823.4:p.Thr420Asn | |
| ENST00000434755.5:c.1259C>A | ENSP00000416946.1:p.Thr420Asn | |
| NM_006092.2:c.1259C>A | NP_006083.1:p.Thr420Asn | |
| XM_005249568.1:c.1259C>A | XP_005249625.1:p.Thr420Asn | |
| XM_005249572.1:c.1259C>A | XP_005249629.1:p.Thr420Asn | |
| XM_005249576.1:c.515C>A | XP_005249633.1:p.Thr172Asn | |
| XM_006715633.2:c.1259C>A | XP_006715696.1:p.Thr420Asn | |
| XM_011515079.1:c.1259C>A | XP_011513381.1:p.Thr420Asn | |
| XM_011515080.1:c.1259C>A | XP_011513382.1:p.Thr420Asn | |
| XM_011515081.1:c.1259C>A | XP_011513383.1:p.Thr420Asn | |
| XM_011515082.1:c.1259C>A | XP_011513384.1:p.Thr420Asn | |
| XM_011515083.1:c.1259C>A | XP_011513385.1:p.Thr420Asn | |
| XM_011515084.1:c.1259C>A | XP_011513386.1:p.Thr420Asn | |
| XM_011515085.1:c.1259C>A | XP_011513387.1:p.Thr420Asn | |
| XM_011515086.1:c.1259C>A | XP_011513388.1:p.Thr420Asn | |
| XM_011515087.1:c.1259C>A | XP_011513389.1:p.Thr420Asn | |
| XM_011515088.1:c.1259C>A | XP_011513390.1:p.Thr420Asn | |
| XR_926907.1:n.1837C>A | ||
| XR_926908.1:n.1837C>A | ||
| XR_926909.1:n.1837C>A | ||
| XR_926910.1:n.1837C>A | ||
| NM_001354849.1:c.1259C>A | NP_001341778.1:p.Thr420Asn | |
| NM_006092.3:c.1259C>A | NP_006083.1:p.Thr420Asn | |
| NR_149002.1:n.1871C>A | ||
| XM_011515080.2:c.1259C>A | XP_011513382.1:p.Thr420Asn | |
| XM_011515081.2:c.1259C>A | XP_011513383.1:p.Thr420Asn | |
| XM_011515088.2:c.1259C>A | XP_011513390.1:p.Thr420Asn | |
| XM_017011674.1:c.1259C>A | XP_016867163.1:p.Thr420Asn | |
| XR_001744529.1:n.1837C>A | ||
| XR_001744530.1:n.1837C>A | ||
| XR_002956406.1:n.1785C>A | ||
| XR_926908.2:n.1837C>A | ||
| XR_926909.2:n.1837C>A | ||
| NM_006092.4:c.1259C>A MANE Select | NP_006083.1:p.Thr420Asn | |
| NM_001354849.2:c.1259C>A | NP_001341778.1:p.Thr420Asn | |
| NR_149002.2:n.1789C>A |