Linked Data
ClinVar Variation Id:
1537166
ClinVar RCV Id:
RCV002157092
dbSNP Id:
rs771454918
ExAC:
10:50701304 T / A
gnomAD v2:
10-50701304-T-A
gnomAD v4:
10-49493258-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493258T>A , CM000672.2:g.49493258T>A | GRCh38 |
| NC_000010.10:g.50701304T>A , CM000672.1:g.50701304T>A | GRCh37 |
| NC_000010.9:g.50371310T>A | NCBI36 |
| NG_009442.1:g.50844A>T , LRG_465:g.50844A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1686-6A>T MANE Select | ENSP00000348089.5:n.1686-6A>T | |
| ENST00000681632.1:n.1764-6A>T | ||
| ENST00000681659.1:c.1527-6A>T | ENSP00000505631.1:n.1527-6A>T | |
| ENST00000355832.9:c.1686-6A>T | ENSP00000348089.5:n.1686-6A>T | |
| ENST00000475116.1:n.275+7280A>T | ||
| ENST00000623073.3:c.87-6A>T | ENSP00000485650.1:n.87-6A>T | |
| ENST00000623115.3:c.-70+7280A>T | ENSP00000485321.1:n.-70+7280A>T | |
| ENST00000623318.1:c.87-6A>T | ENSP00000485423.1:n.87-6A>T | |
| NM_000124.3:c.1686-6A>T | NP_000115.1:n.1686-6A>T | |
| NM_001346440.1:c.1686-6A>T | NP_001333369.1:n.1686-6A>T | |
| NM_000124.4:c.1686-6A>T MANE Select | NP_000115.1:n.1686-6A>T | |
| NM_001346440.2:c.1686-6A>T | NP_001333369.1:n.1686-6A>T |