Linked Data
ClinVar Variation Id:
2644230
ClinVar RCV Id:
RCV003393425
dbSNP Id:
rs886050531
gnomAD v3:
14-50595638-C-T
gnomAD v4:
14-50595638-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50595638C>T , CM000676.2:g.50595638C>T | GRCh38 |
| NC_000014.8:g.51062356C>T , CM000676.1:g.51062356C>T | GRCh37 |
| NC_000014.7:g.50132106C>T | NCBI36 |
| NG_009028.1:g.67557C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.630+6C>T | ENSP00000450989.2:n.630+6C>T | |
| ENST00000556478.3:c.630+6C>T | ENSP00000501428.2:n.630+6C>T | |
| ENST00000682037.1:c.630+6C>T | ENSP00000508289.1:n.630+6C>T | |
| ENST00000682219.1:n.1968+6C>T | ||
| ENST00000682487.1:n.964+6C>T | ||
| ENST00000683037.1:n.551+6C>T | ||
| ENST00000683330.1:n.964+6C>T | ||
| ENST00000683703.1:n.970C>T | ||
| ENST00000683837.1:n.964+6C>T | ||
| ENST00000358385.12:c.630+6C>T MANE Select | ENSP00000351155.7:n.630+6C>T | |
| ENST00000674288.1:c.*1922+6C>T | ENSP00000501522.1:n.*1922+6C>T | |
| ENST00000358385.10:c.630+6C>T | ENSP00000351155.6:n.630+6C>T | |
| ENST00000441560.6:c.630+6C>T | ENSP00000413675.2:n.630+6C>T | |
| ENST00000554886.1:c.198+6C>T | ENSP00000452074.1:n.198+6C>T | |
| NM_001127713.1:c.630+6C>T | NP_001121185.1:n.630+6C>T | |
| NM_015915.4:c.630+6C>T | NP_056999.2:n.630+6C>T | |
| NM_181598.3:c.630+6C>T | NP_853629.2:n.630+6C>T | |
| NM_015915.5:c.630+6C>T MANE Select | NP_056999.2:n.630+6C>T | |
| NM_181598.4:c.630+6C>T | NP_853629.2:n.630+6C>T |