Linked Data
dbSNP Id:
rs192815345
ExAC:
18:21495339 C / G
gnomAD v2:
18-21495339-C-G
gnomAD v3:
18-23915375-C-G
gnomAD v4:
18-23915375-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23915375C>G , CM000680.2:g.23915375C>G | GRCh38 |
| NC_000018.9:g.21495339C>G , CM000680.1:g.21495339C>G | GRCh37 |
| NC_000018.8:g.19749337C>G | NCBI36 |
| NG_007853.2:g.230778C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.2904C>G MANE Plus Clinical | ENSP00000269217.5:p.Phe968Leu | |
| ENST00000313654.14:c.7731C>G MANE Select | ENSP00000324532.8:p.Phe2577Leu | |
| ENST00000649721.1:c.4326C>G | ENSP00000497885.1:p.Phe1442Leu | |
| ENST00000269217.10:c.2904C>G | ENSP00000269217.5:p.Phe968Leu | |
| ENST00000313654.13:c.7731C>G | ENSP00000324532.8:p.Phe2577Leu | |
| ENST00000399516.7:c.7563C>G | ENSP00000382432.2:p.Phe2521Leu | |
| ENST00000586751.5:c.2509C>G | ||
| ENST00000587184.5:c.2736C>G | ENSP00000466557.1:p.Phe912Leu | |
| ENST00000588770.5:n.2309C>G | ||
| NM_000227.4:c.2904C>G | NP_000218.3:p.Phe968Leu | |
| NM_001127717.2:c.7563C>G | NP_001121189.2:p.Phe2521Leu | |
| NM_001127718.2:c.2736C>G | NP_001121190.2:p.Phe912Leu | |
| NM_198129.2:c.7731C>G | NP_937762.2:p.Phe2577Leu | |
| XM_011525978.1:c.7758C>G | XP_011524280.1:p.Phe2586Leu | |
| XM_011525979.1:c.7749C>G | XP_011524281.1:p.Phe2583Leu | |
| XM_011525980.1:c.7740C>G | XP_011524282.1:p.Phe2580Leu | |
| XM_011525981.1:c.7626C>G | XP_011524283.1:p.Phe2542Leu | |
| XM_011525982.1:c.7461C>G | XP_011524284.1:p.Phe2487Leu | |
| XM_011525978.2:c.7758C>G | XP_011524280.1:p.Phe2586Leu | |
| XM_011525979.2:c.7749C>G | XP_011524281.1:p.Phe2583Leu | |
| XM_011525980.2:c.7740C>G | XP_011524282.1:p.Phe2580Leu | |
| XM_011525981.2:c.7626C>G | XP_011524283.1:p.Phe2542Leu | |
| XM_011525982.2:c.7461C>G | XP_011524284.1:p.Phe2487Leu | |
| XM_017025743.1:c.5610C>G | XP_016881232.1:p.Phe1870Leu | |
| XM_017025744.1:c.3300C>G | XP_016881233.1:p.Phe1100Leu | |
| XR_001753199.1:n.7999C>G | ||
| NM_000227.5:c.2904C>G | NP_000218.3:p.Phe968Leu | |
| NM_001127717.3:c.7563C>G | NP_001121189.2:p.Phe2521Leu | |
| NM_001127718.3:c.2736C>G | NP_001121190.2:p.Phe912Leu | |
| NM_198129.3:c.7731C>G | NP_937762.2:p.Phe2577Leu | |
| NM_000227.6:c.2904C>G MANE Plus Clinical | NP_000218.3:p.Phe968Leu | |
| NM_001127717.4:c.7563C>G | NP_001121189.2:p.Phe2521Leu | |
| NM_001127718.4:c.2736C>G | NP_001121190.2:p.Phe912Leu | |
| NM_198129.4:c.7731C>G MANE Select | NP_937762.2:p.Phe2577Leu |