Linked Data
dbSNP Id:
rs752679988
ExAC:
11:6415494 C / A
gnomAD v2:
11-6415494-C-A
gnomAD v4:
11-6394264-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394264C>A , CM000673.2:g.6394264C>A | GRCh38 |
| NC_000011.9:g.6415494C>A , CM000673.1:g.6415494C>A | GRCh37 |
| NC_000011.8:g.6372070C>A | NCBI36 |
| NG_011780.1:g.8840C>A | |
| NG_029615.1:g.30151G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1553C>A MANE Select | ENSP00000340409.4:p.Thr518Asn | |
| ENST00000342245.8:c.1553C>A | ENSP00000340409.4:p.Thr518Asn | |
| ENST00000526280.1:c.610C>A | ||
| ENST00000527275.5:c.1550C>A | ENSP00000435350.1:p.Thr517Asn | |
| ENST00000531303.5:c.*404C>A | ENSP00000432625.1:n.*404C>A | |
| ENST00000531336.1:n.541C>A | ||
| ENST00000533123.5:c.*280C>A | ENSP00000435950.1:n.*280C>A | |
| ENST00000534405.5:c.*384C>A | ENSP00000434353.1:n.*384C>A | |
| NM_000543.4:c.1553C>A | NP_000534.3:p.Thr518Asn | |
| NM_001007593.2:c.1550C>A | NP_001007594.2:p.Thr517Asn | |
| XM_005253075.3:c.*46C>A | XP_005253132.1:n.*46C>A | |
| XM_011520303.1:c.1421C>A | XP_011518605.1:p.Thr474Asn | |
| XM_011520304.1:c.*46C>A | XP_011518606.1:n.*46C>A | |
| NM_001318087.1:c.*46C>A | NP_001305016.1:n.*46C>A | |
| NM_001318088.1:c.632C>A | NP_001305017.1:p.Thr211Asn | |
| NM_001365135.1:c.1421C>A | NP_001352064.1:p.Thr474Asn | |
| NR_027400.2:n.1566C>A | ||
| NR_134502.1:n.1105C>A | ||
| XM_011520304.2:c.*46C>A | XP_011518606.1:n.*46C>A | |
| XR_001747940.2:n.1738C>A | ||
| XR_002957158.1:n.1920C>A | ||
| NM_000543.5:c.1553C>A MANE Select | NP_000534.3:p.Thr518Asn | |
| NM_001007593.3:c.1550C>A | NP_001007594.2:p.Thr517Asn | |
| NM_001318087.2:c.*46C>A | NP_001305016.1:n.*46C>A | |
| NM_001318088.2:c.632C>A | NP_001305017.1:p.Thr211Asn | |
| NM_001365135.2:c.1421C>A | NP_001352064.1:p.Thr474Asn | |
| NR_027400.3:n.1506C>A | ||
| NR_134502.2:n.1045C>A |