Linked Data
ClinVar Variation Id:
226424
ClinVar RCV Id:
RCV000211705
dbSNP Id:
rs372245668
ExAC:
6:24658788 C / T
gnomAD v2:
6-24658788-C-T
gnomAD v3:
6-24658560-C-T
gnomAD v4:
6-24658560-C-T
PubMed:
PMID:24658003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658560C>T , CM000668.2:g.24658560C>T | GRCh38 |
| NC_000006.11:g.24658788C>T , CM000668.1:g.24658788C>T | GRCh37 |
| NC_000006.10:g.24766767C>T | NCBI36 |
| NG_052787.1:g.13328G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378198.9:c.425+1G>A MANE Select | ENSP00000367440.4:n.425+1G>A | |
| ENST00000341060.3:c.251+1G>A | ENSP00000345345.3:n.251+1G>A | |
| ENST00000378198.8:c.425+1G>A | ENSP00000367440.4:n.425+1G>A | |
| ENST00000478285.1:n.612+1G>A | ||
| ENST00000478507.1:n.320-5407G>A | ||
| NM_016614.2:c.425+1G>A | NP_057698.2:n.425+1G>A | |
| XR_926244.1:n.552+1G>A | ||
| NM_016614.3:c.425+1G>A MANE Select | NP_057698.2:n.425+1G>A |