Linked Data
ClinVar Variation Id:
1661437
ClinVar RCV Id:
RCV002176623
dbSNP Id:
rs201245538
ExAC:
19:6714272 C / T
gnomAD v2:
19-6714272-C-T
gnomAD v3:
19-6714261-C-T
gnomAD v4:
19-6714261-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714261C>T , CM000681.2:g.6714261C>T | GRCh38 |
| NC_000019.9:g.6714272C>T , CM000681.1:g.6714272C>T | GRCh37 |
| NC_000019.8:g.6665272C>T | NCBI36 |
| NG_009557.1:g.11391G>A , LRG_27:g.11391G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.477-13G>A | ENSP00000512083.1:n.477-13G>A | |
| ENST00000245907.11:c.600-13G>A MANE Select | ENSP00000245907.4:n.600-13G>A | |
| ENST00000245907.10:c.600-13G>A | ENSP00000245907.4:n.600-13G>A | |
| ENST00000595577.1:n.91G>A | ||
| NM_000064.3:c.600-13G>A | NP_000055.2:n.600-13G>A | |
| NM_000064.4:c.600-13G>A MANE Select | NP_000055.2:n.600-13G>A |