Linked Data
dbSNP Id:
rs772796741
ExAC:
12:6145554 C / A
gnomAD v2:
12-6145554-C-A
gnomAD v3:
12-6036388-C-A
gnomAD v4:
12-6036388-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6036388C>A , CM000674.2:g.6036388C>A | GRCh38 |
| NC_000012.11:g.6145554C>A , CM000674.1:g.6145554C>A | GRCh37 |
| NC_000012.10:g.6015815C>A | NCBI36 |
| NG_009072.1:g.93283G>T | |
| NG_009072.2:g.93283G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261405.10:c.2546G>T MANE Select | ENSP00000261405.5:p.Cys849Phe | |
| ENST00000261405.9:c.2546G>T | ENSP00000261405.5:p.Cys849Phe | |
| ENST00000538635.5:n.421-42454G>T | ||
| NM_000552.3:c.2546G>T | NP_000543.2:p.Cys849Phe | |
| NM_000552.4:c.2546G>T | NP_000543.2:p.Cys849Phe | |
| NM_000552.5:c.2546G>T MANE Select | NP_000543.3:p.Cys849Phe |