Linked Data
dbSNP Id:
rs897120060
gnomAD v2:
7-107350563-C-G
gnomAD v3:
7-107710118-C-G
gnomAD v4:
7-107710118-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107710118C>G , CM000669.2:g.107710118C>G | GRCh38 |
| NC_000007.13:g.107350563C>G , CM000669.1:g.107350563C>G | GRCh37 |
| NC_000007.12:g.107137799C>G | NCBI36 |
| NG_008489.1:g.54484C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.2154C>G MANE Select | ENSP00000494017.1:p.Phe718Leu | |
| ENST00000644846.1:c.810C>G | ||
| ENST00000265715.7:c.2154C>G | ENSP00000265715.3:p.Phe718Leu | |
| ENST00000492030.2:n.377-37C>G | ||
| NM_000441.1:c.2154C>G | NP_000432.1:p.Phe718Leu | |
| XM_005250425.1:c.2154C>G | XP_005250482.1:p.Phe718Leu | |
| XM_005250425.2:c.2154C>G | XP_005250482.1:p.Phe718Leu | |
| XM_017012318.1:c.2076C>G | XP_016867807.1:p.Phe692Leu | |
| NM_000441.2:c.2154C>G MANE Select | NP_000432.1:p.Phe718Leu |