Linked Data
ClinVar Variation Id:
56360
dbSNP Id:
rs386833808
ExAC:
14:23243154 G / A
gnomAD v2:
14-23243154-G-A
gnomAD v3:
14-22773945-G-A
gnomAD v4:
14-22773945-G-A
PubMed:
PMID:10655553
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22773945G>A , CM000676.2:g.22773945G>A | GRCh38 |
| NC_000014.8:g.23243154G>A , CM000676.1:g.23243154G>A | GRCh37 |
| NC_000014.7:g.22312994G>A | NCBI36 |
| NG_012851.2:g.60876C>T , LRG_695:g.60876C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555911.2:c.1417C>T | ENSP00000452551.2:p.Arg473Ter | |
| ENST00000698939.1:c.*483C>T | ENSP00000514047.1:n.*483C>T | |
| ENST00000397532.9:c.1417C>T | ENSP00000380666.4:p.Arg473Ter | |
| ENST00000674313.1:c.1417C>T MANE Select | ENSP00000501493.1:p.Arg473Ter | |
| ENST00000285850.11:c.1417C>T | ENSP00000285850.7:p.Arg473Ter | |
| ENST00000397528.8:c.1417C>T | ENSP00000380662.4:p.Arg473Ter | |
| ENST00000397529.6:c.1417C>T | ENSP00000380663.2:p.Arg473Ter | |
| ENST00000397532.7:c.1417C>T | ENSP00000380666.3:p.Arg473Ter | |
| ENST00000554061.5:n.1088C>T | ||
| ENST00000554517.5:c.619C>T | ENSP00000452083.1:p.Arg207Ter | |
| ENST00000555678.1:n.678C>T | ||
| ENST00000555702.5:c.1417C>T | ENSP00000451881.1:p.Arg473Ter | |
| ENST00000556287.5:c.*380C>T | ENSP00000450715.1:n.*380C>T | |
| ENST00000556350.1:c.411C>T | ||
| NM_001126105.2:c.1417C>T , LRG_695t1:c.1417C>T | NP_001119577.1:p.Arg473Ter | |
| NM_001126106.2:c.1417C>T , LRG_695t2:c.1417C>T | NP_001119578.1:p.Arg473Ter | |
| NR_040448.1:n.2032C>T | ||
| XM_006720302.1:c.1417C>T | XP_006720365.1:p.Arg473Ter | |
| XM_011537298.1:c.1417C>T | XP_011535600.1:p.Arg473Ter | |
| XM_011537299.1:c.1417C>T | XP_011535601.1:p.Arg473Ter | |
| XM_006720302.2:c.1417C>T | XP_006720365.1:p.Arg473Ter | |
| XM_011537298.3:c.1417C>T | XP_011535600.1:p.Arg473Ter | |
| NM_001126105.3:c.1417C>T | NP_001119577.1:p.Arg473Ter | |
| NM_001126106.4:c.1417C>T | NP_001119578.1:p.Arg473Ter | |
| NM_003982.4:c.1417C>T MANE Select | NP_003973.3:p.Arg473Ter |