Linked Data
ClinVar Variation Id:
5206
ClinVar RCV Id:
RCV002468919
dbSNP Id:
rs606231155
ExAC:
19:38778577 T / C
gnomAD v2:
19-38778577-T-C
gnomAD v4:
19-38287937-T-C
PubMed:
PMID:19185281
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38287937T>C , CM000681.2:g.38287937T>C | GRCh38 |
| NC_000019.9:g.38778577T>C , CM000681.1:g.38778577T>C | GRCh37 |
| NC_000019.8:g.43470417T>C | NCBI36 |
| NG_013372.1:g.28480T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301244.12:c.337+2T>C MANE Select | ENSP00000301244.5:n.337+2T>C | |
| ENST00000301244.11:c.337+2T>C | ENSP00000301244.5:n.337+2T>C | |
| ENST00000454580.7:c.166+2T>C | ENSP00000389788.2:n.166+2T>C | |
| ENST00000587090.5:c.187+2T>C | ENSP00000466407.1:n.187+2T>C | |
| ENST00000587516.5:c.278-1201T>C | ENSP00000465721.1:n.278-1201T>C | |
| ENST00000590210.1:n.536T>C | ||
| NM_001166103.1:c.166+2T>C | NP_001159575.1:n.166+2T>C | |
| NM_021102.3:c.337+2T>C | NP_066925.1:n.337+2T>C | |
| NM_021102.4:c.337+2T>C MANE Select | NP_066925.1:n.337+2T>C | |
| NM_001166103.2:c.166+2T>C | NP_001159575.1:n.166+2T>C |