Linked Data
ClinVar Variation Id:
463361
ClinVar RCV Id:
RCV000544310
RCV000620739
RCV001149034
RCV001146248
RCV001146249
RCV001146250
RCV001193951
RCV001613349
RCV000987233
RCV001149033
RCV001841481
RCV003486860
dbSNP Id:
rs182050752
ExAC:
3:38651221 G / A
gnomAD v2:
3-38651221-G-A
gnomAD v3:
3-38609730-G-A
gnomAD v4:
3-38609730-G-A
PubMed:
PMID:20129283
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38609730G>A , CM000665.2:g.38609730G>A | GRCh38 |
| NC_000003.11:g.38651221G>A , CM000665.1:g.38651221G>A | GRCh37 |
| NC_000003.10:g.38626225G>A | NCBI36 |
| NG_008934.1:g.44943C>T , LRG_289:g.44943C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327956.7:c.934+4C>T | ENSP00000333674.7:n.934+4C>T | |
| ENST00000333535.9:c.934+4C>T | ENSP00000328968.4:n.934+4C>T | |
| ENST00000413689.6:c.934+4C>T MANE Plus Clinical | ENSP00000410257.1:n.934+4C>T | |
| ENST00000423572.7:c.934+4C>T MANE Select | ENSP00000398266.2:n.934+4C>T | |
| ENST00000333535.8:c.934+4C>T | ENSP00000328968.4:n.934+4C>T | |
| ENST00000413689.5:c.934+4C>T | ENSP00000410257.1:n.934+4C>T | |
| ENST00000414099.6:c.934+4C>T | ENSP00000398962.2:n.934+4C>T | |
| ENST00000423572.6:c.934+4C>T | ENSP00000398266.2:n.934+4C>T | |
| ENST00000425664.5:c.934+4C>T | ENSP00000416634.1:n.934+4C>T | |
| ENST00000449557.6:c.934+4C>T | ENSP00000413996.2:n.934+4C>T | |
| ENST00000450102.6:c.934+4C>T | ENSP00000403355.2:n.934+4C>T | |
| ENST00000451551.6:c.934+4C>T | ENSP00000388797.2:n.934+4C>T | |
| ENST00000455624.6:c.934+4C>T | ENSP00000399524.2:n.934+4C>T | |
| NM_000335.4:c.934+4C>T , LRG_289t2:c.934+4C>T | NP_000326.2:n.934+4C>T | |
| NM_001099404.1:c.934+4C>T , LRG_289t3:c.934+4C>T | NP_001092874.1:n.934+4C>T | |
| NM_001099405.1:c.934+4C>T | NP_001092875.1:n.934+4C>T | |
| NM_001160160.1:c.934+4C>T | NP_001153632.1:n.934+4C>T | |
| NM_001160161.1:c.934+4C>T | NP_001153633.1:n.934+4C>T | |
| NM_198056.2:c.934+4C>T , LRG_289t1:c.934+4C>T | NP_932173.1:n.934+4C>T | |
| XM_006713282.2:c.934+4C>T | XP_006713345.1:n.934+4C>T | |
| XM_011533991.1:c.934+4C>T | XP_011532293.1:n.934+4C>T | |
| XM_011533992.1:c.805+4C>T | XP_011532294.1:n.805+4C>T | |
| NM_001354701.1:c.934+4C>T | NP_001341630.1:n.934+4C>T | |
| XM_011533991.2:c.934+4C>T | XP_011532293.1:n.934+4C>T | |
| XM_017007017.1:c.934+4C>T | XP_016862506.1:n.934+4C>T | |
| NM_000335.5:c.934+4C>T MANE Select | NP_000326.2:n.934+4C>T | |
| NM_001160160.2:c.934+4C>T | NP_001153632.1:n.934+4C>T | |
| NM_001354701.2:c.934+4C>T | NP_001341630.1:n.934+4C>T | |
| NM_001099404.2:c.934+4C>T MANE Plus Clinical | NP_001092874.1:n.934+4C>T | |
| NM_001099405.2:c.934+4C>T | NP_001092875.1:n.934+4C>T | |
| NM_001160161.2:c.934+4C>T | NP_001153633.1:n.934+4C>T | |
| NM_198056.3:c.934+4C>T | NP_932173.1:n.934+4C>T |