Linked Data
dbSNP Id:
rs764827019
ExAC:
12:14660025 A / C
gnomAD v2:
12-14660025-A-C
gnomAD v3:
12-14507091-A-C
gnomAD v4:
12-14507091-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14507091A>C , CM000674.2:g.14507091A>C | GRCh38 |
| NC_000012.11:g.14660025A>C , CM000674.1:g.14660025A>C | GRCh37 |
| NC_000012.10:g.14551292A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1214T>G MANE Select | ENSP00000240617.5:p.Phe405Cys | |
| ENST00000240617.9:c.1214T>G | ENSP00000240617.5:p.Phe405Cys | |
| NM_024829.5:c.1214T>G | NP_079105.4:p.Phe405Cys | |
| NM_024829.6:c.1214T>G MANE Select | NP_079105.4:p.Phe405Cys |