Linked Data
dbSNP Id:
rs757668888
ExAC:
10:96612633 G / T
gnomAD v2:
10-96612633-G-T
gnomAD v3:
10-94852876-G-T
gnomAD v4:
10-94852876-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94852876G>T , CM000672.2:g.94852876G>T | GRCh38 |
| NC_000010.10:g.96612633G>T , CM000672.1:g.96612633G>T | GRCh37 |
| NC_000010.9:g.96602623G>T | NCBI36 |
| NG_008384.2:g.95171G>T | |
| NG_008384.3:g.95196G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1435G>T MANE Select | ENSP00000360372.3:p.Val479Phe | |
| ENST00000645461.1:n.2346G>T | ||
| ENST00000371321.7:c.1435G>T | ENSP00000360372.3:p.Val479Phe | |
| ENST00000464755.1:c.2198G>T | ENSP00000483243.1:n.2198G>T | |
| NM_000769.2:c.1435G>T | NP_000760.1:p.Val479Phe | |
| NM_000769.4:c.1435G>T MANE Select | NP_000760.1:p.Val479Phe |