Linked Data
ClinVar Variation Id:
2814565
ClinVar RCV Id:
RCV003682982
MyVariant Identifiers:
chr3:g.193361322G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193643533G>A , CM000665.2:g.193643533G>A | GRCh38 |
| NC_000003.11:g.193361322G>A , CM000665.1:g.193361322G>A | GRCh37 |
| NC_000003.10:g.194844016G>A | NCBI36 |
| NG_011605.1:g.55390G>A , LRG_337:g.55390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1383G>A MANE Select | ENSP00000355324.2:p.Val461= | |
| ENST00000361828.7:c.1218G>A | ENSP00000354429.3:p.Val406= | |
| ENST00000361908.8:c.1329G>A | ENSP00000354681.3:p.Val443= | |
| ENST00000392436.7:c.1218G>A | ENSP00000376231.3:p.Val406= | |
| ENST00000392437.6:c.1272G>A | ENSP00000376232.2:p.Val424= | |
| ENST00000642289.1:c.1157G>A | ||
| ENST00000642445.1:c.1218G>A | ENSP00000495535.1:p.Val406= | |
| ENST00000642593.1:c.1218G>A | ENSP00000494273.1:p.Val406= | |
| ENST00000643329.1:c.900G>A | ENSP00000493673.1:p.Val300= | |
| ENST00000643737.1:c.*1299G>A | ENSP00000494210.1:n.*1299G>A | |
| ENST00000644595.1:c.1218G>A | ENSP00000494121.1:p.Val406= | |
| ENST00000644629.1:c.878G>A | ||
| ENST00000644841.1:c.846G>A | ENSP00000493988.1:p.Val282= | |
| ENST00000644959.1:c.1187G>A | ||
| ENST00000645553.1:c.1233G>A | ENSP00000494725.1:p.Val411= | |
| ENST00000646085.1:c.*696G>A | ENSP00000494509.1:n.*696G>A | |
| ENST00000646277.1:c.1383G>A | ENSP00000495289.1:p.Val461= | |
| ENST00000646544.1:c.206G>A | ||
| ENST00000646699.1:c.1157G>A | ||
| ENST00000646793.1:c.1110G>A | ENSP00000494512.1:p.Val370= | |
| ENST00000361150.6:c.1221G>A | ENSP00000354781.2:p.Val407= | |
| ENST00000361510.6:c.1383G>A | ENSP00000355324.2:p.Val461= | |
| ENST00000361715.6:c.1275G>A | ENSP00000355311.2:p.Val425= | |
| ENST00000361828.6:c.1272G>A | ENSP00000354429.2:p.Val424= | |
| ENST00000361908.7:c.1329G>A | ENSP00000354681.3:p.Val443= | |
| ENST00000392438.7:c.1218G>A | ENSP00000376233.3:p.Val406= | |
| ENST00000475899.1:n.414G>A | ||
| NM_015560.2:c.1218G>A , LRG_337t1:c.1218G>A | NP_056375.2:p.Val406= | |
| NM_130831.2:c.1110G>A | NP_570844.1:p.Val370= | |
| NM_130832.2:c.1164G>A | NP_570845.1:p.Val388= | |
| NM_130833.2:c.1221G>A | NP_570846.1:p.Val407= | |
| NM_130834.2:c.1272G>A | NP_570847.2:p.Val424= | |
| NM_130835.2:c.1275G>A | NP_570848.1:p.Val425= | |
| NM_130836.2:c.1329G>A | NP_570849.2:p.Val443= | |
| NM_130837.2:c.1383G>A , LRG_337t2:c.1383G>A | NP_570850.2:p.Val461= | |
| XM_011512863.1:c.1383G>A | XP_011511165.1:p.Val461= | |
| XM_011512864.1:c.1329G>A | XP_011511166.1:p.Val443= | |
| XM_011512865.1:c.1272G>A | XP_011511167.1:p.Val424= | |
| XM_011512866.1:c.1221G>A | XP_011511168.1:p.Val407= | |
| XM_011512867.1:c.1218G>A | XP_011511169.1:p.Val406= | |
| XM_011512868.1:c.1110G>A | XP_011511170.1:p.Val370= | |
| XM_011512869.1:c.1383G>A | XP_011511171.1:p.Val461= | |
| NM_001354663.1:c.849G>A | NP_001341592.1:p.Val283= | |
| NM_001354664.1:c.846G>A | NP_001341593.1:p.Val282= | |
| XR_001740158.2:n.1612G>A | ||
| XR_001740159.2:n.1447G>A | ||
| NM_001354663.2:c.849G>A | NP_001341592.1:p.Val283= | |
| NM_001354664.2:c.846G>A | NP_001341593.1:p.Val282= | |
| NM_130831.3:c.1110G>A | NP_570844.1:p.Val370= | |
| NM_130832.3:c.1164G>A | NP_570845.1:p.Val388= | |
| NM_130834.3:c.1272G>A | NP_570847.2:p.Val424= | |
| NM_130836.3:c.1329G>A | NP_570849.2:p.Val443= | |
| NM_015560.3:c.1218G>A | NP_056375.2:p.Val406= | |
| NM_130833.3:c.1221G>A | NP_570846.1:p.Val407= | |
| NM_130835.3:c.1275G>A | NP_570848.1:p.Val425= | |
| NM_130837.3:c.1383G>A MANE Select | NP_570850.2:p.Val461= |