Linked Data
dbSNP Id:
rs750404298
ExAC:
17:39742799 C / G
gnomAD v2:
17-39742799-C-G
gnomAD v3:
17-41586547-C-G
gnomAD v4:
17-41586547-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586547C>G , CM000679.2:g.41586547C>G | GRCh38 |
| NC_000017.10:g.39742799C>G , CM000679.1:g.39742799C>G | GRCh37 |
| NC_000017.9:g.36996325C>G | NCBI36 |
| NG_008624.1:g.5349G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.288G>C MANE Select | ENSP00000167586.6:p.Leu96Phe | |
| ENST00000167586.6:c.288G>C | ENSP00000167586.6:p.Leu96Phe | |
| NM_000526.4:c.288G>C | NP_000517.2:p.Leu96Phe | |
| NM_000526.5:c.288G>C MANE Select | NP_000517.3:p.Leu96Phe |