Linked Data
ClinVar Variation Id:
2802343
ClinVar RCV Id:
RCV003668774
dbSNP Id:
rs1326349949
gnomAD v2:
3-193385002-T-G
gnomAD v4:
3-193667213-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193667213T>G , CM000665.2:g.193667213T>G | GRCh38 |
| NC_000003.11:g.193385002T>G , CM000665.1:g.193385002T>G | GRCh37 |
| NC_000003.10:g.194867696T>G | NCBI36 |
| NG_011605.1:g.79070T>G , LRG_337:g.79070T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.2916T>G MANE Select | ENSP00000355324.2:p.Phe972Leu | |
| ENST00000361828.7:c.2751T>G | ENSP00000354429.3:p.Phe917Leu | |
| ENST00000361908.8:c.2862T>G | ENSP00000354681.3:p.Phe954Leu | |
| ENST00000392436.7:c.2751T>G | ENSP00000376231.3:p.Phe917Leu | |
| ENST00000392437.6:c.2805T>G | ENSP00000376232.2:p.Phe935Leu | |
| ENST00000642289.1:c.2690T>G | ||
| ENST00000642445.1:c.2751T>G | ENSP00000495535.1:p.Phe917Leu | |
| ENST00000642593.1:c.*976T>G | ENSP00000494273.1:n.*976T>G | |
| ENST00000643329.1:c.2433T>G | ENSP00000493673.1:p.Phe811Leu | |
| ENST00000643737.1:c.*2832T>G | ENSP00000494210.1:n.*2832T>G | |
| ENST00000644595.1:c.2751T>G | ENSP00000494121.1:p.Phe917Leu | |
| ENST00000644629.1:c.2338T>G | ||
| ENST00000644841.1:c.*1235T>G | ENSP00000493988.1:n.*1235T>G | |
| ENST00000644959.1:c.2745T>G | ||
| ENST00000645553.1:c.2766T>G | ENSP00000494725.1:p.Phe922Leu | |
| ENST00000646085.1:c.*2229T>G | ENSP00000494509.1:n.*2229T>G | |
| ENST00000646277.1:c.*1352T>G | ENSP00000495289.1:n.*1352T>G | |
| ENST00000646544.1:c.1739T>G | ||
| ENST00000646699.1:c.2690T>G | ||
| ENST00000646793.1:c.2643T>G | ENSP00000494512.1:p.Phe881Leu | |
| ENST00000361150.6:c.2754T>G | ENSP00000354781.2:p.Phe918Leu | |
| ENST00000361510.6:c.2916T>G | ENSP00000355324.2:p.Phe972Leu | |
| ENST00000361715.6:c.2808T>G | ENSP00000355311.2:p.Phe936Leu | |
| ENST00000361828.6:c.2805T>G | ENSP00000354429.2:p.Phe935Leu | |
| ENST00000361908.7:c.2862T>G | ENSP00000354681.3:p.Phe954Leu | |
| ENST00000392438.7:c.2751T>G | ENSP00000376233.3:p.Phe917Leu | |
| ENST00000429164.1:c.38T>G | ||
| ENST00000445863.1:c.327T>G | ENSP00000398358.1:p.Phe109Leu | |
| NM_015560.2:c.2751T>G , LRG_337t1:c.2751T>G | NP_056375.2:p.Phe917Leu | |
| NM_130831.2:c.2643T>G | NP_570844.1:p.Phe881Leu | |
| NM_130832.2:c.2697T>G | NP_570845.1:p.Phe899Leu | |
| NM_130833.2:c.2754T>G | NP_570846.1:p.Phe918Leu | |
| NM_130834.2:c.2805T>G | NP_570847.2:p.Phe935Leu | |
| NM_130835.2:c.2808T>G | NP_570848.1:p.Phe936Leu | |
| NM_130836.2:c.2862T>G | NP_570849.2:p.Phe954Leu | |
| NM_130837.2:c.2916T>G , LRG_337t2:c.2916T>G | NP_570850.2:p.Phe972Leu | |
| XM_011512863.1:c.2916T>G | XP_011511165.1:p.Phe972Leu | |
| XM_011512864.1:c.2862T>G | XP_011511166.1:p.Phe954Leu | |
| XM_011512865.1:c.2805T>G | XP_011511167.1:p.Phe935Leu | |
| XM_011512866.1:c.2754T>G | XP_011511168.1:p.Phe918Leu | |
| XM_011512867.1:c.2751T>G | XP_011511169.1:p.Phe917Leu | |
| XM_011512868.1:c.2643T>G | XP_011511170.1:p.Phe881Leu | |
| XR_924835.1:n.582+1707A>C | ||
| NM_001354663.1:c.2382T>G | NP_001341592.1:p.Phe794Leu | |
| NM_001354664.1:c.2379T>G | NP_001341593.1:p.Phe793Leu | |
| XR_001740158.2:n.3170T>G | ||
| XR_001740159.2:n.3005T>G | ||
| XR_001741072.1:n.600+1707A>C | ||
| XR_001741074.1:n.475+3595A>C | ||
| XR_924835.2:n.600+1707A>C | ||
| NM_001354663.2:c.2382T>G | NP_001341592.1:p.Phe794Leu | |
| NM_001354664.2:c.2379T>G | NP_001341593.1:p.Phe793Leu | |
| NM_130831.3:c.2643T>G | NP_570844.1:p.Phe881Leu | |
| NM_130832.3:c.2697T>G | NP_570845.1:p.Phe899Leu | |
| NM_130834.3:c.2805T>G | NP_570847.2:p.Phe935Leu | |
| NM_130836.3:c.2862T>G | NP_570849.2:p.Phe954Leu | |
| NM_015560.3:c.2751T>G | NP_056375.2:p.Phe917Leu | |
| NM_130833.3:c.2754T>G | NP_570846.1:p.Phe918Leu | |
| NM_130835.3:c.2808T>G | NP_570848.1:p.Phe936Leu | |
| NM_130837.3:c.2916T>G MANE Select | NP_570850.2:p.Phe972Leu |