Linked Data
ClinVar Variation Id:
318481
dbSNP Id:
rs112611398
ExAC:
16:23436179 G / A
gnomAD v2:
16-23436179-G-A
gnomAD v3:
16-23424858-G-A
gnomAD v4:
16-23424858-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23424858G>A , CM000678.2:g.23424858G>A | GRCh38 |
| NC_000016.9:g.23436179G>A , CM000678.1:g.23436179G>A | GRCh37 |
| NC_000016.8:g.23343680G>A | NCBI36 |
| NG_021287.1:g.33334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307149.10:c.900C>T MANE Select | ENSP00000305442.5:p.Asn300= | |
| ENST00000307149.9:c.900C>T | ENSP00000305442.5:p.Asn300= | |
| NM_153603.3:c.900C>T | NP_705831.1:p.Asn300= | |
| XR_429680.1:n.1116C>T | ||
| XM_017023870.1:c.705C>T | XP_016879359.1:p.Asn235= | |
| XR_002957852.1:n.1121C>T | ||
| XR_429680.2:n.1121C>T | ||
| NM_153603.4:c.900C>T MANE Select | NP_705831.1:p.Asn300= |