Linked Data
ClinVar Variation Id:
318480
ClinVar RCV Id:
RCV000296980
dbSNP Id:
rs762510375
ExAC:
16:23436116 G / A
gnomAD v2:
16-23436116-G-A
gnomAD v3:
16-23424795-G-A
gnomAD v4:
16-23424795-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23424795G>A , CM000678.2:g.23424795G>A | GRCh38 |
| NC_000016.9:g.23436116G>A , CM000678.1:g.23436116G>A | GRCh37 |
| NC_000016.8:g.23343617G>A | NCBI36 |
| NG_021287.1:g.33397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307149.10:c.963C>T MANE Select | ENSP00000305442.5:p.Thr321= | |
| ENST00000307149.9:c.963C>T | ENSP00000305442.5:p.Thr321= | |
| NM_153603.3:c.963C>T | NP_705831.1:p.Thr321= | |
| XR_429680.1:n.1179C>T | ||
| XM_017023870.1:c.768C>T | XP_016879359.1:p.Thr256= | |
| XR_002957852.1:n.1184C>T | ||
| XR_429680.2:n.1184C>T | ||
| NM_153603.4:c.963C>T MANE Select | NP_705831.1:p.Thr321= |