Linked Data
dbSNP Id:
rs769825878
ExAC:
12:6132801 C / A
gnomAD v2:
12-6132801-C-A
gnomAD v4:
12-6023635-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6023635C>A , CM000674.2:g.6023635C>A | GRCh38 |
| NC_000012.11:g.6132801C>A , CM000674.1:g.6132801C>A | GRCh37 |
| NC_000012.10:g.6003062C>A | NCBI36 |
| NG_009072.1:g.106036G>T | |
| NG_009072.2:g.106036G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3375G>T MANE Select | ENSP00000261405.5:p.Leu1125Phe | |
| ENST00000261405.9:c.3375G>T | ENSP00000261405.5:p.Leu1125Phe | |
| ENST00000538635.5:n.421-29701G>T | ||
| NM_000552.3:c.3375G>T | NP_000543.2:p.Leu1125Phe | |
| NM_000552.4:c.3375G>T | NP_000543.2:p.Leu1125Phe | |
| NM_000552.5:c.3375G>T MANE Select | NP_000543.3:p.Leu1125Phe |