Linked Data
dbSNP Id:
rs367543003
ExAC:
10:96522472 T / C
gnomAD v2:
10-96522472-T-C
gnomAD v3:
10-94762715-T-C
gnomAD v4:
10-94762715-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762715T>C , CM000672.2:g.94762715T>C | GRCh38 |
| NC_000010.10:g.96522472T>C , CM000672.1:g.96522472T>C | GRCh37 |
| NC_000010.9:g.96512462T>C | NCBI36 |
| NG_008384.2:g.5010T>C | |
| NG_008384.3:g.5035T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.10T>C MANE Select | ENSP00000360372.3:p.Phe4Leu | |
| ENST00000371321.7:c.10T>C | ENSP00000360372.3:p.Phe4Leu | |
| ENST00000464755.1:c.932-12343T>C | ENSP00000483243.1:n.932-12343T>C | |
| ENST00000480405.2:c.10T>C | ENSP00000483847.1:p.Phe4Leu | |
| NM_000769.2:c.10T>C | NP_000760.1:p.Phe4Leu | |
| NM_000769.4:c.10T>C MANE Select | NP_000760.1:p.Phe4Leu |