Linked Data
gnomAD v4:
10-94775526-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775526G>C , CM000672.2:g.94775526G>C | GRCh38 |
| NC_000010.10:g.96535283G>C , CM000672.1:g.96535283G>C | GRCh37 |
| NC_000010.9:g.96525273G>C | NCBI36 |
| NG_008384.2:g.17821G>C | |
| NG_008384.3:g.17846G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.468G>C MANE Select | ENSP00000360372.3:p.Leu156Phe | |
| ENST00000645461.1:n.1521G>C | ||
| ENST00000371321.7:c.468G>C | ENSP00000360372.3:p.Leu156Phe | |
| ENST00000464755.1:c.1231G>C | ENSP00000483243.1:n.1231G>C | |
| ENST00000480405.2:c.468G>C | ENSP00000483847.1:p.Leu156Phe | |
| NM_000769.2:c.468G>C | NP_000760.1:p.Leu156Phe | |
| NM_000769.4:c.468G>C MANE Select | NP_000760.1:p.Leu156Phe |