Linked Data
ClinVar Variation Id:
318466
dbSNP Id:
rs199904223
gnomAD v2:
16-23404666-G-T
gnomAD v3:
16-23393345-G-T
gnomAD v4:
16-23393345-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23393345G>T , CM000678.2:g.23393345G>T | GRCh38 |
| NC_000016.9:g.23404666G>T , CM000678.1:g.23404666G>T | GRCh37 |
| NC_000016.8:g.23312167G>T | NCBI36 |
| NG_021287.1:g.64847C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307149.10:c.1890C>A MANE Select | ENSP00000305442.5:p.Ile630= | |
| ENST00000307149.9:c.1890C>A | ENSP00000305442.5:p.Ile630= | |
| ENST00000566364.1:n.237C>A | ||
| ENST00000569635.1:n.59+1543C>A | ||
| NM_153603.3:c.1890C>A | NP_705831.1:p.Ile630= | |
| XR_429680.1:n.2106C>A | ||
| XM_017023870.1:c.1695C>A | XP_016879359.1:p.Ile565= | |
| XR_002957852.1:n.2111C>A | ||
| XR_429680.2:n.2111C>A | ||
| NM_153603.4:c.1890C>A MANE Select | NP_705831.1:p.Ile630= |