Linked Data
ClinVar Variation Id:
318472
dbSNP Id:
rs116153163
ExAC:
16:23421636 G / A
gnomAD v2:
16-23421636-G-A
gnomAD v3:
16-23410315-G-A
gnomAD v4:
16-23410315-G-A
MyVariant Identifiers:
chr16:g.23421636G>A (hg19)
chr16:g.23421636_23421645delinsAAAGTCCCCA (hg19)
chr16:g.23410315G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23410315G>A , CM000678.2:g.23410315G>A | GRCh38 |
| NC_000016.9:g.23421636G>A , CM000678.1:g.23421636G>A | GRCh37 |
| NC_000016.8:g.23329137G>A | NCBI36 |
| NG_021287.1:g.47877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307149.10:c.1455C>T MANE Select | ENSP00000305442.5:p.Phe485= | |
| ENST00000307149.9:c.1455C>T | ENSP00000305442.5:p.Phe485= | |
| ENST00000567821.1:n.490C>T | ||
| NM_153603.3:c.1455C>T | NP_705831.1:p.Phe485= | |
| XR_429680.1:n.1671C>T | ||
| XM_017023870.1:c.1260C>T | XP_016879359.1:p.Phe420= | |
| XR_002957852.1:n.1676C>T | ||
| XR_429680.2:n.1676C>T | ||
| NM_153603.4:c.1455C>T MANE Select | NP_705831.1:p.Phe485= |