Linked Data
ClinVar Variation Id:
234551
dbSNP Id:
rs758628487
ExAC:
16:3293346 G / A
gnomAD v2:
16-3293346-G-A
gnomAD v3:
16-3243346-G-A
gnomAD v4:
16-3243346-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243346G>A , CM000678.2:g.3243346G>A | GRCh38 |
| NC_000016.9:g.3293346G>A , CM000678.1:g.3293346G>A | GRCh37 |
| NC_000016.8:g.3233347G>A | NCBI36 |
| NG_007871.1:g.18282C>T , LRG_190:g.18282C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1262C>T | ||
| ENST00000219596.6:c.2141C>T MANE Select | ENSP00000219596.1:p.Pro714Leu | |
| ENST00000219596.5:c.2141C>T | ENSP00000219596.1:p.Pro714Leu | |
| ENST00000339854.8:c.1601C>T | ENSP00000339639.4:p.Pro534Leu | |
| ENST00000536379.5:c.1508C>T | ENSP00000445079.1:p.Pro503Leu | |
| ENST00000536980.5:c.*417C>T | ENSP00000444178.1:n.*417C>T | |
| ENST00000537682.5:c.*417C>T | ENSP00000438611.1:n.*417C>T | |
| ENST00000538326.5:c.*766C>T | ENSP00000437486.1:n.*766C>T | |
| ENST00000539145.5:c.1062C>T | ENSP00000444471.1:n.1062C>T | |
| ENST00000541159.5:c.1683C>T | ENSP00000438711.1:n.1683C>T | |
| ENST00000542898.5:c.*417C>T | ENSP00000444615.1:n.*417C>T | |
| ENST00000570511.5:c.1546C>T | ENSP00000458312.1:n.1546C>T | |
| ENST00000572244.5:c.831C>T | ENSP00000461186.1:n.831C>T | |
| ENST00000574583.5:c.913C>T | ENSP00000460269.1:n.913C>T | |
| ENST00000576315.5:c.946C>T | ENSP00000460551.1:n.946C>T | |
| ENST00000621655.1:c.1678C>T | ENSP00000481436.1:n.1678C>T | |
| NM_000243.2:c.2141C>T , LRG_190t1:c.2141C>T | NP_000234.1:p.Pro714Leu | |
| NM_001198536.1:c.*345C>T | NP_001185465.1:n.*345C>T | |
| XM_017023236.2:c.2138C>T | XP_016878725.1:p.Pro713Leu | |
| NM_000243.3:c.2141C>T MANE Select | NP_000234.1:p.Pro714Leu | |
| NM_001198536.2:c.*345C>T | NP_001185465.2:n.*345C>T |