Linked Data
ClinVar Variation Id:
1601365
ClinVar RCV Id:
RCV002136832
dbSNP Id:
rs4970834
ExAC:
1:109814880 C / T
gnomAD v2:
1-109814880-C-T
gnomAD v3:
1-109272258-C-T
gnomAD v4:
1-109272258-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109272258C>T , CM000663.2:g.109272258C>T | GRCh38 |
| NC_000001.10:g.109814880C>T , CM000663.1:g.109814880C>T | GRCh37 |
| NC_000001.9:g.109616403C>T | NCBI36 |
| NG_052669.1:g.27554C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271332.4:c.7927-20C>T MANE Select | ENSP00000271332.3:n.7927-20C>T | |
| ENST00000271332.3:c.7927-20C>T | ENSP00000271332.3:n.7927-20C>T | |
| ENST00000489018.1:n.1619-20C>T | ||
| ENST00000498157.1:n.723-20C>T | ||
| NM_001408.2:c.7927-20C>T | NP_001399.1:n.7927-20C>T | |
| XM_005270580.3:c.7927-20C>T | XP_005270637.1:n.7927-20C>T | |
| NM_001408.3:c.7927-20C>T MANE Select | NP_001399.1:n.7927-20C>T |