Linked Data
dbSNP Id:
rs2035770901
gnomAD v4:
9-120439452-A-G
MyVariant Identifiers:
chr9:g.123201730A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120439452A>G , CM000671.2:g.120439452A>G | GRCh38 |
| NC_000009.11:g.123201730A>G , CM000671.1:g.123201730A>G | GRCh37 |
| NC_000009.10:g.122241551A>G | NCBI36 |
| NG_008999.1:g.145708T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.2979T>C | ENSP00000354065.4:p.Leu993= | |
| ENST00000416449.6:c.3573T>C | ENSP00000400395.2:p.Leu1191= | |
| ENST00000479584.2:n.1916T>C | ||
| ENST00000684780.1:n.3959T>C | ||
| ENST00000685866.1:c.*1496T>C | ENSP00000509484.1:n.*1496T>C | |
| ENST00000686376.1:c.3749T>C | ENSP00000510021.1:n.3749T>C | |
| ENST00000686842.1:n.7223T>C | ||
| ENST00000687279.1:c.3666T>C | ENSP00000508692.1:p.Leu1222= | |
| ENST00000687311.1:n.3632T>C | ||
| ENST00000687633.1:c.3570T>C | ENSP00000510289.1:p.Leu1190= | |
| ENST00000688923.1:n.3041T>C | ||
| ENST00000689688.1:c.3669T>C | ENSP00000510155.1:p.Leu1223= | |
| ENST00000690646.1:c.3573T>C | ENSP00000510383.1:p.Leu1191= | |
| ENST00000690814.1:c.*845T>C | ENSP00000508792.1:n.*845T>C | |
| ENST00000691504.1:n.3563T>C | ||
| ENST00000692155.1:c.3749T>C | ENSP00000510290.1:n.3749T>C | |
| ENST00000692746.1:n.3576T>C | ||
| ENST00000693386.1:c.3573T>C | ENSP00000510003.1:p.Leu1191= | |
| ENST00000693433.1:n.3563T>C | ||
| ENST00000693714.1:n.3616T>C | ||
| ENST00000693728.1:c.3573T>C | ENSP00000510580.1:p.Leu1191= | |
| ENST00000349780.9:c.3669T>C MANE Select | ENSP00000343818.4:p.Leu1223= | |
| ENST00000349780.8:c.3669T>C | ENSP00000343818.4:p.Leu1223= | |
| ENST00000360190.8:c.3669T>C | ENSP00000353317.4:p.Leu1223= | |
| ENST00000360822.7:c.2979T>C | ENSP00000354065.4:p.Leu993= | |
| ENST00000416449.5:c.1851T>C | ENSP00000400395.1:p.Leu617= | |
| ENST00000425647.1:c.699T>C | ENSP00000409941.1:p.Leu233= | |
| ENST00000473282.6:c.*2493T>C | ENSP00000419265.1:n.*2493T>C | |
| ENST00000480112.5:c.*1496T>C | ENSP00000418418.1:n.*1496T>C | |
| ENST00000483412.5:n.2977T>C | ||
| NM_001011649.2:c.3669T>C | NP_001011649.1:p.Leu1223= | |
| NM_001272039.1:c.2979T>C | NP_001258968.1:p.Leu993= | |
| NM_018249.5:c.3669T>C | NP_060719.4:p.Leu1223= | |
| NR_073554.1:n.3938T>C | ||
| NR_073555.1:n.3861T>C | ||
| NR_073556.1:n.4068T>C | ||
| NR_073557.1:n.3941T>C | ||
| NR_073558.1:n.3938T>C | ||
| XM_006717182.1:c.3573T>C | XP_006717245.1:p.Leu1191= | |
| XM_006717185.1:c.2982T>C | XP_006717248.1:p.Leu994= | |
| XM_011518860.1:c.3666T>C | XP_011517162.1:p.Leu1222= | |
| XM_011518861.1:c.3666T>C | XP_011517163.1:p.Leu1222= | |
| XM_017014921.1:c.3570T>C | XP_016870410.1:p.Leu1190= | |
| XM_017014922.1:c.2835T>C | XP_016870411.1:p.Leu945= | |
| XM_017014923.1:c.2982T>C | XP_016870412.1:p.Leu994= | |
| XM_017014924.1:c.1464T>C | XP_016870413.1:p.Leu488= | |
| NM_018249.6:c.3669T>C MANE Select | NP_060719.4:p.Leu1223= | |
| NM_001011649.3:c.3669T>C | NP_001011649.1:p.Leu1223= | |
| NR_073554.2:n.3935T>C | ||
| NR_073555.2:n.3858T>C | ||
| NR_073556.2:n.4065T>C | ||
| NR_073557.2:n.3938T>C | ||
| NR_073558.2:n.3935T>C | ||
| NM_001272039.2:c.2979T>C | NP_001258968.1:p.Leu993= |