Linked Data
ClinVar Variation Id:
224983
ClinVar RCV Id:
RCV000986183
RCV001265601
RCV002463662
RCV003147413
RCV000210691
RCV000681462
RCV001293661
RCV001293662
RCV001526444
RCV001775672
dbSNP Id:
rs201650281
ExAC:
16:75669880 G / A
gnomAD v2:
16-75669880-G-A
gnomAD v3:
16-75635982-G-A
gnomAD v4:
16-75635982-G-A
PubMed:
PMID:25356970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75635982G>A , CM000678.2:g.75635982G>A | GRCh38 |
| NC_000016.9:g.75669880G>A , CM000678.1:g.75669880G>A | GRCh37 |
| NC_000016.8:g.74227381G>A | NCBI36 |
| NG_028025.1:g.16706C>T , LRG_366:g.16706C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302445.8:c.599C>T MANE Select | ENSP00000303043.3:p.Pro200Leu | |
| ENST00000302445.7:c.599C>T | ENSP00000303043.3:p.Pro200Leu | |
| ENST00000319410.9:c.683C>T | ENSP00000325448.5:p.Pro228Leu | |
| ENST00000562875.5:c.*108C>T | ENSP00000456185.1:n.*108C>T | |
| ENST00000564578.5:c.*142C>T | ENSP00000455818.1:n.*142C>T | |
| ENST00000566249.5:c.401C>T | ||
| ENST00000566560.5:n.713C>T | ||
| ENST00000566772.1:c.92C>T | ENSP00000455488.1:p.Pro31Leu | |
| ENST00000568378.5:c.147-7993C>T | ENSP00000454512.1:n.147-7993C>T | |
| ENST00000568682.5:c.131C>T | ENSP00000462057.1:p.Pro44Leu | |
| ENST00000570215.1:c.683C>T | ENSP00000458028.1:p.Pro228Leu | |
| NM_001130089.1:c.683C>T , LRG_366t1:c.683C>T | NP_001123561.1:p.Pro228Leu | |
| NM_005548.2:c.599C>T | NP_005539.1:p.Pro200Leu | |
| XM_017023217.1:c.131C>T | XP_016878706.1:p.Pro44Leu | |
| NM_001130089.2:c.683C>T | NP_001123561.1:p.Pro228Leu | |
| NM_001378148.1:c.131C>T | NP_001365077.1:p.Pro44Leu | |
| NM_005548.3:c.599C>T MANE Select | NP_005539.1:p.Pro200Leu |