Linked Data
ClinVar Variation Id:
1639027
ClinVar RCV Id:
RCV002126627
dbSNP Id:
rs371929562
ExAC:
1:7998242 C / T
gnomAD v2:
1-7998242-C-T
gnomAD v3:
1-7938182-C-T
gnomAD v4:
1-7938182-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7938182C>T , CM000663.2:g.7938182C>T | GRCh38 |
| NC_000001.10:g.7998242C>T , CM000663.1:g.7998242C>T | GRCh37 |
| NC_000001.9:g.7920829C>T | NCBI36 |
| NG_052834.1:g.9984G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377507.8:c.346+11G>A MANE Select | ENSP00000366729.3:n.346+11G>A | |
| ENST00000377507.7:c.346+11G>A | ENSP00000366729.3:n.346+11G>A | |
| ENST00000492571.1:c.112+11G>A | ENSP00000464978.1:n.112+11G>A | |
| ENST00000615230.4:c.346+11G>A | ENSP00000478699.1:n.346+11G>A | |
| NM_001561.5:c.346+11G>A | NP_001552.2:n.346+11G>A | |
| XM_006710618.2:c.346+11G>A | XP_006710681.1:n.346+11G>A | |
| XM_011541386.1:c.346+11G>A | XP_011539688.1:n.346+11G>A | |
| XM_006710618.3:c.346+11G>A | XP_006710681.1:n.346+11G>A | |
| XM_011541386.2:c.346+11G>A | XP_011539688.1:n.346+11G>A | |
| NM_001561.6:c.346+11G>A MANE Select | NP_001552.2:n.346+11G>A |