Linked Data
ClinVar Variation Id:
375
dbSNP Id:
rs137854540
ExAC:
20:44526707 T / G
gnomAD v2:
20-44526707-T-G
gnomAD v3:
20-45898068-T-G
gnomAD v4:
20-45898068-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45898068T>G , CM000682.2:g.45898068T>G | GRCh38 |
| NC_000020.10:g.44526707T>G , CM000682.1:g.44526707T>G | GRCh37 |
| NC_000020.9:g.43960114T>G | NCBI36 |
| NG_008291.1:g.12117T>G | |
| NG_012115.1:g.19080A>C | |
| NG_012115.2:g.19080A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480961.3:n.5455T>G | ||
| ENST00000484855.4:n.4073T>G | ||
| ENST00000493522.8:n.1685T>G | ||
| ENST00000606066.3:n.1809T>G | ||
| ENST00000606782.3:n.1439T>G | ||
| ENST00000607187.3:n.4242T>G | ||
| ENST00000607212.3:n.1529T>G | ||
| ENST00000607814.7:n.3069T>G | ||
| ENST00000677755.2:n.1738T>G | ||
| ENST00000678622.2:n.2609T>G | ||
| ENST00000678691.2:n.3566T>G | ||
| ENST00000678988.2:n.2696T>G | ||
| ENST00000679053.2:n.4440T>G | ||
| ENST00000679343.2:n.4779T>G | ||
| ENST00000684198.1:n.1933T>G | ||
| ENST00000372459.7:c.1318T>G | ENSP00000361537.2:p.Phe440Val | |
| ENST00000372484.8:c.1372T>G | ENSP00000361562.3:p.Phe458Val | |
| ENST00000484855.3:n.4073T>G | ||
| ENST00000493522.7:n.1685T>G | ||
| ENST00000606066.2:n.1457T>G | ||
| ENST00000607187.2:n.3756T>G | ||
| ENST00000607212.2:n.1529T>G | ||
| ENST00000607482.6:c.1318T>G | ENSP00000475524.2:p.Phe440Val | |
| ENST00000646241.3:c.1318T>G MANE Select | ENSP00000493613.2:p.Phe440Val | |
| ENST00000676597.1:c.1157T>G | ENSP00000503904.1:n.1157T>G | |
| ENST00000676967.1:c.*711T>G | ENSP00000502866.1:n.*711T>G | |
| ENST00000677394.1:c.1372T>G | ENSP00000504790.1:p.Phe458Val | |
| ENST00000677525.1:c.*1141T>G | ENSP00000504197.1:n.*1141T>G | |
| ENST00000677755.1:n.1738T>G | ||
| ENST00000678025.1:c.*1382T>G | ENSP00000503463.1:n.*1382T>G | |
| ENST00000678078.1:c.*881T>G | ENSP00000502993.1:n.*881T>G | |
| ENST00000678217.1:c.2100T>G | ENSP00000504109.1:n.2100T>G | |
| ENST00000678331.1:c.*36T>G | ENSP00000504524.1:n.*36T>G | |
| ENST00000678443.1:c.1228T>G | ENSP00000504006.1:p.Phe410Val | |
| ENST00000678512.1:n.5879T>G | ||
| ENST00000678622.1:n.2237T>G | ||
| ENST00000678691.1:n.3027T>G | ||
| ENST00000678939.1:c.*657T>G | ENSP00000503404.1:n.*657T>G | |
| ENST00000678988.1:n.2696T>G | ||
| ENST00000679053.1:n.4068T>G | ||
| ENST00000679343.1:n.4400T>G | ||
| ENST00000191018.9:c.1318T>G | ENSP00000191018.5:p.Phe440Val | |
| ENST00000354880.9:c.1321T>G | ENSP00000346952.4:p.Phe441Val | |
| ENST00000372459.6:c.1318T>G | ENSP00000361537.2:p.Phe440Val | |
| ENST00000372484.7:c.1372T>G | ENSP00000361562.3:p.Phe458Val | |
| ENST00000484855.2:n.1688T>G | ||
| ENST00000606000.1:n.342T>G | ||
| ENST00000606788.5:c.*683T>G | ENSP00000476235.1:n.*683T>G | |
| NM_000308.2:c.1372T>G | NP_000299.2:p.Phe458Val | |
| NM_000308.3:c.1372T>G | NP_000299.2:p.Phe458Val | |
| NM_001127695.1:c.1318T>G | NP_001121167.1:p.Phe440Val | |
| NM_001127695.2:c.1318T>G | NP_001121167.1:p.Phe440Val | |
| NM_001167594.1:c.1321T>G | NP_001161066.1:p.Phe441Val | |
| NM_001167594.2:c.1321T>G | NP_001161066.1:p.Phe441Val | |
| NR_133656.1:n.2561T>G | ||
| NM_000308.4:c.1318T>G MANE Select | NP_000299.3:p.Phe440Val | |
| NM_001127695.3:c.1318T>G | NP_001121167.1:p.Phe440Val | |
| NM_001167594.3:c.1267T>G | NP_001161066.2:p.Phe423Val | |
| NR_133656.2:n.1370T>G |