Linked Data
dbSNP Id:
rs1321123503
gnomAD v2:
4-100341830-A-G
gnomAD v3:
4-99420673-A-G
gnomAD v4:
4-99420673-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420673A>G , CM000666.2:g.99420673A>G | GRCh38 |
| NC_000004.11:g.100341830A>G , CM000666.1:g.100341830A>G | GRCh37 |
| NC_000004.10:g.100560853A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.685T>C MANE Select | ENSP00000414254.2:p.Phe229Leu | |
| ENST00000209665.8:c.721T>C | ENSP00000209665.4:p.Phe241Leu | |
| ENST00000437033.6:c.685T>C | ENSP00000414254.2:p.Phe229Leu | |
| ENST00000476959.5:c.745T>C | ENSP00000420269.1:p.Phe249Leu | |
| ENST00000482593.5:c.514T>C | ENSP00000420613.1:p.Phe172Leu | |
| NM_000673.4:c.721T>C | NP_000664.2:p.Phe241Leu | |
| NM_001166504.1:c.745T>C | NP_001159976.1:p.Phe249Leu | |
| NM_000673.7:c.685T>C MANE Select | NP_000664.3:p.Phe229Leu | |
| NM_001166504.2:c.745T>C | NP_001159976.1:p.Phe249Leu |