Linked Data
ClinVar Variation Id:
1393104
ClinVar RCV Id:
RCV001896561
dbSNP Id:
rs147582935
gnomAD v4:
18-46579723-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46579723G>T , CM000680.2:g.46579723G>T | GRCh38 |
| NC_000018.9:g.44159686G>T , CM000680.1:g.44159686G>T | GRCh37 |
| NC_000018.8:g.42413684G>T | NCBI36 |
| NG_016646.1:g.82311C>A | |
| NG_016646.2:g.82311C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642948.1:c.1716C>A MANE Select | ENSP00000496347.1:p.Asn572Lys | |
| ENST00000335730.6:n.1029C>A | ||
| ENST00000441551.6:c.1716C>A | ENSP00000387621.2:p.Asn572Lys | |
| ENST00000536736.5:c.1716C>A | ENSP00000444586.1:p.Asn572Lys | |
| NM_144612.6:c.1716C>A | NP_653213.6:p.Asn572Lys | |
| XM_011525803.1:c.1716C>A | XP_011524105.1:p.Asn572Lys | |
| XM_011525804.1:c.-30-1856C>A | XP_011524106.1:n.-30-1856C>A | |
| XM_011525804.2:c.-30-1856C>A | XP_011524106.1:n.-30-1856C>A | |
| XM_017025548.1:c.1716C>A | XP_016881037.1:p.Asn572Lys | |
| XM_024451084.1:c.198C>A | XP_024306852.1:p.Asn66Lys | |
| NM_001384474.1:c.1716C>A MANE Select | NP_001371403.1:p.Asn572Lys | |
| NM_144612.7:c.1716C>A | NP_653213.6:p.Asn572Lys |