Linked Data
ClinVar Variation Id:
1516942
ClinVar RCV Id:
RCV002026972
dbSNP Id:
rs111781417
ExAC:
19:41848072 C / T
gnomAD v2:
19-41848072-C-T
gnomAD v4:
19-41342167-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41342167C>T , CM000681.2:g.41342167C>T | GRCh38 |
| NC_000019.9:g.41848072C>T , CM000681.1:g.41848072C>T | GRCh37 |
| NC_000019.8:g.46539912C>T | NCBI36 |
| NG_013364.1:g.16760G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.712+3G>A MANE Select | ENSP00000221930.4:n.712+3G>A | |
| ENST00000600196.2:c.712+3G>A | ENSP00000504008.1:n.712+3G>A | |
| ENST00000677934.1:c.634+2580G>A | ENSP00000504769.1:n.634+2580G>A | |
| ENST00000221930.5:c.712+3G>A | ENSP00000221930.4:n.712+3G>A | |
| ENST00000597453.1:n.246G>A | ||
| ENST00000600196.1:n.172+3G>A | ||
| NM_000660.5:c.712+3G>A | NP_000651.3:n.712+3G>A | |
| XM_011527242.1:c.712+3G>A | XP_011525544.1:n.712+3G>A | |
| NM_000660.6:c.712+3G>A | NP_000651.3:n.712+3G>A | |
| XM_011527242.2:c.712+3G>A | XP_011525544.1:n.712+3G>A | |
| NM_000660.7:c.712+3G>A MANE Select | NP_000651.3:n.712+3G>A |