Linked Data
dbSNP Id:
rs370260254
ExAC:
1:116226518 C / T
gnomAD v2:
1-116226518-C-T
gnomAD v3:
1-115683897-C-T
gnomAD v4:
1-115683897-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115683897C>T , CM000663.2:g.115683897C>T | GRCh38 |
| NC_000001.10:g.116226518C>T , CM000663.1:g.116226518C>T | GRCh37 |
| NC_000001.9:g.116028041C>T | NCBI36 |
| NG_016548.1:g.46945C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355485.7:c.947-47C>T MANE Select | ENSP00000347672.2:n.947-47C>T | |
| ENST00000310260.7:c.947-47C>T | ENSP00000310800.3:n.947-47C>T | |
| ENST00000355485.6:c.947-47C>T | ENSP00000347672.2:n.947-47C>T | |
| ENST00000369509.1:c.947-47C>T | ENSP00000358522.1:n.947-47C>T | |
| ENST00000369510.8:c.941-47C>T | ENSP00000358523.3:n.941-47C>T | |
| ENST00000474344.1:n.329-47C>T | ||
| ENST00000478369.5:n.231-47C>T | ||
| NM_001172411.1:c.941-47C>T | NP_001165882.1:n.941-47C>T | |
| NM_001172412.1:c.947-47C>T | NP_001165883.1:n.947-47C>T | |
| NM_138959.2:c.947-47C>T | NP_620409.1:n.947-47C>T | |
| NM_138959.3:c.947-47C>T MANE Select | NP_620409.1:n.947-47C>T | |
| NM_001172411.2:c.941-47C>T | NP_001165882.1:n.941-47C>T | |
| NM_001172412.2:c.947-47C>T | NP_001165883.1:n.947-47C>T |