Linked Data
ClinVar Variation Id:
5090
ClinVar RCV Id:
RCV000005395
dbSNP Id:
rs121908376
gnomAD v3:
3-193648109-A-G
gnomAD v4:
3-193648109-A-G
PubMed:
PMID:18195150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193648109A>G , CM000665.2:g.193648109A>G | GRCh38 |
| NC_000003.11:g.193365898A>G , CM000665.1:g.193365898A>G | GRCh37 |
| NC_000003.10:g.194848592A>G | NCBI36 |
| NG_011605.1:g.59966A>G , LRG_337:g.59966A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361510.8:c.1910A>G MANE Select | ENSP00000355324.2:p.Tyr637Cys | |
| ENST00000361828.7:c.1745A>G | ENSP00000354429.3:p.Tyr582Cys | |
| ENST00000361908.8:c.1856A>G | ENSP00000354681.3:p.Tyr619Cys | |
| ENST00000392436.7:c.1745A>G | ENSP00000376231.3:p.Tyr582Cys | |
| ENST00000392437.6:c.1799A>G | ENSP00000376232.2:p.Tyr600Cys | |
| ENST00000642289.1:c.1684A>G | ||
| ENST00000642445.1:c.1745A>G | ENSP00000495535.1:p.Tyr582Cys | |
| ENST00000642593.1:c.1706-686A>G | ENSP00000494273.1:n.1706-686A>G | |
| ENST00000643329.1:c.1427A>G | ENSP00000493673.1:p.Tyr476Cys | |
| ENST00000643737.1:c.*1826A>G | ENSP00000494210.1:n.*1826A>G | |
| ENST00000644595.1:c.1745A>G | ENSP00000494121.1:p.Tyr582Cys | |
| ENST00000644629.1:c.1332A>G | ||
| ENST00000644841.1:c.*229A>G | ENSP00000493988.1:n.*229A>G | |
| ENST00000644959.1:c.1714A>G | ||
| ENST00000645553.1:c.1760A>G | ENSP00000494725.1:p.Tyr587Cys | |
| ENST00000646085.1:c.*1223A>G | ENSP00000494509.1:n.*1223A>G | |
| ENST00000646277.1:c.*346A>G | ENSP00000495289.1:n.*346A>G | |
| ENST00000646544.1:c.733A>G | ||
| ENST00000646699.1:c.1684A>G | ||
| ENST00000646793.1:c.1637A>G | ENSP00000494512.1:p.Tyr546Cys | |
| ENST00000361150.6:c.1748A>G | ENSP00000354781.2:p.Tyr583Cys | |
| ENST00000361510.6:c.1910A>G | ENSP00000355324.2:p.Tyr637Cys | |
| ENST00000361715.6:c.1802A>G | ENSP00000355311.2:p.Tyr601Cys | |
| ENST00000361828.6:c.1799A>G | ENSP00000354429.2:p.Tyr600Cys | |
| ENST00000361908.7:c.1856A>G | ENSP00000354681.3:p.Tyr619Cys | |
| ENST00000392438.7:c.1745A>G | ENSP00000376233.3:p.Tyr582Cys | |
| ENST00000483516.1:n.243A>G | ||
| NM_015560.2:c.1745A>G , LRG_337t1:c.1745A>G | NP_056375.2:p.Tyr582Cys | |
| NM_130831.2:c.1637A>G | NP_570844.1:p.Tyr546Cys | |
| NM_130832.2:c.1691A>G | NP_570845.1:p.Tyr564Cys | |
| NM_130833.2:c.1748A>G | NP_570846.1:p.Tyr583Cys | |
| NM_130834.2:c.1799A>G | NP_570847.2:p.Tyr600Cys | |
| NM_130835.2:c.1802A>G | NP_570848.1:p.Tyr601Cys | |
| NM_130836.2:c.1856A>G | NP_570849.2:p.Tyr619Cys | |
| NM_130837.2:c.1910A>G , LRG_337t2:c.1910A>G | NP_570850.2:p.Tyr637Cys | |
| XM_011512863.1:c.1910A>G | XP_011511165.1:p.Tyr637Cys | |
| XM_011512864.1:c.1856A>G | XP_011511166.1:p.Tyr619Cys | |
| XM_011512865.1:c.1799A>G | XP_011511167.1:p.Tyr600Cys | |
| XM_011512866.1:c.1748A>G | XP_011511168.1:p.Tyr583Cys | |
| XM_011512867.1:c.1745A>G | XP_011511169.1:p.Tyr582Cys | |
| XM_011512868.1:c.1637A>G | XP_011511170.1:p.Tyr546Cys | |
| XM_011512869.1:c.1910A>G | XP_011511171.1:p.Tyr637Cys | |
| XR_924835.1:n.583-799T>C | ||
| NM_001354663.1:c.1376A>G | NP_001341592.1:p.Tyr459Cys | |
| NM_001354664.1:c.1373A>G | NP_001341593.1:p.Tyr458Cys | |
| XR_001740158.2:n.2139A>G | ||
| XR_001740159.2:n.1974A>G | ||
| XR_001741074.1:n.476-799T>C | ||
| XR_924835.2:n.601-799T>C | ||
| NM_001354663.2:c.1376A>G | NP_001341592.1:p.Tyr459Cys | |
| NM_001354664.2:c.1373A>G | NP_001341593.1:p.Tyr458Cys | |
| NM_130831.3:c.1637A>G | NP_570844.1:p.Tyr546Cys | |
| NM_130832.3:c.1691A>G | NP_570845.1:p.Tyr564Cys | |
| NM_130834.3:c.1799A>G | NP_570847.2:p.Tyr600Cys | |
| NM_130836.3:c.1856A>G | NP_570849.2:p.Tyr619Cys | |
| NM_015560.3:c.1745A>G | NP_056375.2:p.Tyr582Cys | |
| NM_130833.3:c.1748A>G | NP_570846.1:p.Tyr583Cys | |
| NM_130835.3:c.1802A>G | NP_570848.1:p.Tyr601Cys | |
| NM_130837.3:c.1910A>G MANE Select | NP_570850.2:p.Tyr637Cys |