Linked Data
ClinVar Variation Id:
194800
dbSNP Id:
rs144814374
ExAC:
16:23400271 G / A
gnomAD v2:
16-23400271-G-A
gnomAD v3:
16-23388950-G-A
gnomAD v4:
16-23388950-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23388950G>A , CM000678.2:g.23388950G>A | GRCh38 |
| NC_000016.9:g.23400271G>A , CM000678.1:g.23400271G>A | GRCh37 |
| NC_000016.8:g.23307772G>A | NCBI36 |
| NG_021287.1:g.69242C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307149.10:c.2283C>T MANE Select | ENSP00000305442.5:p.Thr761= | |
| ENST00000307149.9:c.2283C>T | ENSP00000305442.5:p.Thr761= | |
| ENST00000561854.1:c.640C>T | ||
| ENST00000566364.1:n.630C>T | ||
| NM_153603.3:c.2283C>T | NP_705831.1:p.Thr761= | |
| XR_429680.1:n.2814C>T | ||
| XM_017023870.1:c.2088C>T | XP_016879359.1:p.Thr696= | |
| XR_002957852.1:n.2922C>T | ||
| XR_429680.2:n.2819C>T | ||
| NM_153603.4:c.2283C>T MANE Select | NP_705831.1:p.Thr761= |