Linked Data
dbSNP Id:
rs775692720
ExAC:
3:165548384 A / G
gnomAD v3:
3-165830596-A-G
gnomAD v4:
3-165830596-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830596A>G , CM000665.2:g.165830596A>G | GRCh38 |
| NC_000003.11:g.165548384A>G , CM000665.1:g.165548384A>G | GRCh37 |
| NC_000003.10:g.167031078A>G | NCBI36 |
| NG_009031.1:g.11870T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.438T>C MANE Select | ENSP00000264381.3:p.Phe146= | |
| ENST00000264381.7:c.438T>C | ENSP00000264381.3:p.Phe146= | |
| ENST00000479451.5:c.107+6718T>C | ENSP00000418325.1:n.107+6718T>C | |
| ENST00000482958.1:c.438T>C | ENSP00000419804.1:p.Phe146= | |
| ENST00000488954.1:c.107+6718T>C | ENSP00000418504.1:n.107+6718T>C | |
| ENST00000497011.5:c.438T>C | ENSP00000419505.1:p.Phe146= | |
| NM_000055.2:c.438T>C | NP_000046.1:p.Phe146= | |
| XM_005247685.1:c.561T>C | XP_005247742.1:p.Phe187= | |
| NM_000055.3:c.438T>C | NP_000046.1:p.Phe146= | |
| NR_137635.1:n.159+6718T>C | ||
| NR_137636.1:n.605T>C | ||
| NM_000055.4:c.438T>C MANE Select | NP_000046.1:p.Phe146= | |
| NR_137635.2:n.110+6718T>C | ||
| NR_137636.2:n.556T>C |