Linked Data
ClinVar Variation Id:
389909
ClinVar RCV Id:
RCV000430116
dbSNP Id:
rs768229451
ExAC:
16:89712467 G / A
gnomAD v2:
16-89712467-G-A
gnomAD v3:
16-89646059-G-A
gnomAD v4:
16-89646059-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89646059G>A , CM000678.2:g.89646059G>A | GRCh38 |
| NC_000016.9:g.89712467G>A , CM000678.1:g.89712467G>A | GRCh37 |
| NC_000016.8:g.88239968G>A | NCBI36 |
| NG_033005.1:g.16727C>T | |
| NG_033005.2:g.16727C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397901.8:c.*7C>T MANE Select | ENSP00000380998.3:n.*7C>T | |
| ENST00000535997.7:c.617C>T | ENSP00000442120.3:p.Pro206Leu | |
| ENST00000547687.2:n.1346C>T | ||
| ENST00000549328.2:c.*220C>T | ENSP00000447899.1:n.*220C>T | |
| ENST00000551981.6:n.1173C>T | ||
| ENST00000674799.1:c.*7C>T | ENSP00000502267.1:n.*7C>T | |
| ENST00000675016.1:c.*1922C>T | ENSP00000502282.1:n.*1922C>T | |
| ENST00000675076.1:n.594C>T | ||
| ENST00000675161.1:c.*220C>T | ENSP00000501615.1:n.*220C>T | |
| ENST00000675309.1:c.*471C>T | ENSP00000502291.1:n.*471C>T | |
| ENST00000675536.1:c.653C>T | ENSP00000501759.1:p.Pro218Leu | |
| ENST00000675778.1:c.*7C>T | ENSP00000502825.1:n.*7C>T | |
| ENST00000675909.1:c.*7C>T | ENSP00000502022.1:n.*7C>T | |
| ENST00000675952.1:n.867C>T | ||
| ENST00000676118.1:c.*515C>T | ENSP00000501619.1:n.*515C>T | |
| ENST00000676342.1:n.2056C>T | ||
| ENST00000676355.1:c.*7C>T | ENSP00000502147.1:n.*7C>T | |
| ENST00000676402.1:c.*593C>T | ENSP00000501794.1:n.*593C>T | |
| ENST00000397901.7:c.*7C>T | ENSP00000380998.3:n.*7C>T | |
| ENST00000535997.6:c.*7C>T | ENSP00000442120.2:n.*7C>T | |
| ENST00000547687.1:n.383C>T | ||
| ENST00000549139.5:n.589C>T | ||
| ENST00000549328.1:c.*220C>T | ENSP00000447899.1:n.*220C>T | |
| ENST00000550102.5:c.*7C>T | ENSP00000449243.1:n.*7C>T | |
| NM_001083314.3:c.578C>T | NP_001076783.1:p.Pro193Leu | |
| NM_002768.4:c.*7C>T | NP_002759.2:n.*7C>T | |
| NR_046418.2:n.963C>T | ||
| XM_011523099.1:c.923C>T | XP_011521401.1:p.Pro308Leu | |
| NM_002768.5:c.*7C>T MANE Select | NP_002759.2:n.*7C>T | |
| NM_001083314.4:c.578C>T | NP_001076783.1:p.Pro193Leu | |
| NR_046418.3:n.886C>T |