Linked Data
dbSNP Id:
rs555087130
ExAC:
10:96522457 G / T
gnomAD v2:
10-96522457-G-T
gnomAD v3:
10-94762700-G-T
gnomAD v4:
10-94762700-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762700G>T , CM000672.2:g.94762700G>T | GRCh38 |
| NC_000010.10:g.96522457G>T , CM000672.1:g.96522457G>T | GRCh37 |
| NC_000010.9:g.96512447G>T | NCBI36 |
| NG_008384.2:g.4995G>T | |
| NG_008384.3:g.5020G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.-6G>T MANE Select | ENSP00000360372.3:n.-6G>T | |
| ENST00000371321.7:c.-6G>T | ENSP00000360372.3:n.-6G>T | |
| ENST00000464755.1:c.932-12358G>T | ENSP00000483243.1:n.932-12358G>T | |
| ENST00000480405.2:c.-6G>T | ENSP00000483847.1:n.-6G>T | |
| NM_000769.2:c.-6G>T | NP_000760.1:n.-6G>T | |
| NM_000769.4:c.-6G>T MANE Select | NP_000760.1:n.-6G>T |