Linked Data
ClinVar Variation Id:
2206
ClinVar RCV Id:
RCV000002290
dbSNP Id:
rs72547528
ExAC:
16:31102655 G / A
gnomAD v2:
16-31102655-G-A
gnomAD v3:
16-31091334-G-A
gnomAD v4:
16-31091334-G-A
COSMIC:
COSM1740263
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31091334G>A , CM000678.2:g.31091334G>A | GRCh38 |
| NC_000016.9:g.31102655G>A , CM000678.1:g.31102655G>A | GRCh37 |
| NC_000016.8:g.31010156G>A | NCBI36 |
| NG_011564.1:g.8622C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394975.3:c.292C>T MANE Select | ENSP00000378426.2:p.Arg98Trp | |
| ENST00000300851.10:c.353C>T | ENSP00000300851.6:p.Ala118Val | |
| ENST00000319788.11:c.374C>T | ENSP00000326135.7:p.Ala125Val | |
| ENST00000354895.4:c.182C>T | ENSP00000346969.4:p.Ala61Val | |
| ENST00000394971.7:c.386C>T | ENSP00000378422.3:p.Ala129Val | |
| ENST00000394975.2:c.292C>T | ENSP00000378426.2:p.Arg98Trp | |
| ENST00000420057.2:c.254C>T | ||
| ENST00000472468.1:c.-24C>T | ENSP00000458994.1:n.-24C>T | |
| ENST00000498155.1:c.389C>T | ENSP00000417662.1:p.Ala130Val | |
| ENST00000529564.1:c.283+1978C>T | ENSP00000431371.1:n.283+1978C>T | |
| ENST00000532364.1:c.173+3223C>T | ENSP00000460316.1:n.173+3223C>T | |
| ENST00000533518.5:c.165C>T | ||
| NM_001311311.1:c.376C>T | NP_001298240.1:p.Arg126Trp | |
| NM_024006.4:c.292C>T | NP_076869.1:p.Arg98Trp | |
| NM_024006.5:c.292C>T | NP_076869.1:p.Arg98Trp | |
| NM_206824.1:c.182C>T | NP_996560.1:p.Ala61Val | |
| NM_206824.2:c.182C>T | NP_996560.1:p.Ala61Val | |
| XM_011545944.1:c.292C>T | XP_011544246.1:p.Arg98Trp | |
| XM_011545945.1:c.182C>T | XP_011544247.1:p.Ala61Val | |
| XR_950848.1:n.1080C>T | ||
| NM_024006.6:c.292C>T MANE Select | NP_076869.1:p.Arg98Trp | |
| NM_001311311.2:c.376C>T | NP_001298240.1:p.Arg126Trp | |
| NM_206824.3:c.182C>T | NP_996560.1:p.Ala61Val |