Linked Data
ClinVar Variation Id:
1460933
ClinVar RCV Id:
RCV001983195
dbSNP Id:
rs190223702
ExAC:
3:193360767 G / A
gnomAD v2:
3-193360767-G-A
gnomAD v3:
3-193642978-G-A
gnomAD v4:
3-193642978-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193642978G>A , CM000665.2:g.193642978G>A | GRCh38 |
| NC_000003.11:g.193360767G>A , CM000665.1:g.193360767G>A | GRCh37 |
| NC_000003.10:g.194843461G>A | NCBI36 |
| NG_011605.1:g.54835G>A , LRG_337:g.54835G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1234G>A MANE Select | ENSP00000355324.2:p.Ala412Thr | |
| ENST00000361828.7:c.1069G>A | ENSP00000354429.3:p.Ala357Thr | |
| ENST00000361908.8:c.1180G>A | ENSP00000354681.3:p.Ala394Thr | |
| ENST00000392436.7:c.1069G>A | ENSP00000376231.3:p.Ala357Thr | |
| ENST00000392437.6:c.1123G>A | ENSP00000376232.2:p.Ala375Thr | |
| ENST00000642289.1:c.1080-395G>A | ||
| ENST00000642445.1:c.1069G>A | ENSP00000495535.1:p.Ala357Thr | |
| ENST00000642593.1:c.1069G>A | ENSP00000494273.1:p.Ala357Thr | |
| ENST00000643329.1:c.751G>A | ENSP00000493673.1:p.Ala251Thr | |
| ENST00000643737.1:c.*1150G>A | ENSP00000494210.1:n.*1150G>A | |
| ENST00000644595.1:c.1069G>A | ENSP00000494121.1:p.Ala357Thr | |
| ENST00000644629.1:c.729G>A | ||
| ENST00000644841.1:c.697G>A | ENSP00000493988.1:p.Ala233Thr | |
| ENST00000644959.1:c.1038G>A | ||
| ENST00000645553.1:c.1084G>A | ENSP00000494725.1:p.Ala362Thr | |
| ENST00000646085.1:c.*547G>A | ENSP00000494509.1:n.*547G>A | |
| ENST00000646277.1:c.1234G>A | ENSP00000495289.1:p.Ala412Thr | |
| ENST00000646544.1:c.128+133G>A | ||
| ENST00000646699.1:c.1080-395G>A | ||
| ENST00000646793.1:c.961G>A | ENSP00000494512.1:p.Ala321Thr | |
| ENST00000361150.6:c.1072G>A | ENSP00000354781.2:p.Ala358Thr | |
| ENST00000361510.6:c.1234G>A | ENSP00000355324.2:p.Ala412Thr | |
| ENST00000361715.6:c.1126G>A | ENSP00000355311.2:p.Ala376Thr | |
| ENST00000361828.6:c.1123G>A | ENSP00000354429.2:p.Ala375Thr | |
| ENST00000361908.7:c.1180G>A | ENSP00000354681.3:p.Ala394Thr | |
| ENST00000392438.7:c.1069G>A | ENSP00000376233.3:p.Ala357Thr | |
| ENST00000475899.1:n.265G>A | ||
| ENST00000497189.5:n.555G>A | ||
| NM_015560.2:c.1069G>A , LRG_337t1:c.1069G>A | NP_056375.2:p.Ala357Thr | |
| NM_130831.2:c.961G>A | NP_570844.1:p.Ala321Thr | |
| NM_130832.2:c.1015G>A | NP_570845.1:p.Ala339Thr | |
| NM_130833.2:c.1072G>A | NP_570846.1:p.Ala358Thr | |
| NM_130834.2:c.1123G>A | NP_570847.2:p.Ala375Thr | |
| NM_130835.2:c.1126G>A | NP_570848.1:p.Ala376Thr | |
| NM_130836.2:c.1180G>A | NP_570849.2:p.Ala394Thr | |
| NM_130837.2:c.1234G>A , LRG_337t2:c.1234G>A | NP_570850.2:p.Ala412Thr | |
| XM_011512863.1:c.1234G>A | XP_011511165.1:p.Ala412Thr | |
| XM_011512864.1:c.1180G>A | XP_011511166.1:p.Ala394Thr | |
| XM_011512865.1:c.1123G>A | XP_011511167.1:p.Ala375Thr | |
| XM_011512866.1:c.1072G>A | XP_011511168.1:p.Ala358Thr | |
| XM_011512867.1:c.1069G>A | XP_011511169.1:p.Ala357Thr | |
| XM_011512868.1:c.961G>A | XP_011511170.1:p.Ala321Thr | |
| XM_011512869.1:c.1234G>A | XP_011511171.1:p.Ala412Thr | |
| NM_001354663.1:c.700G>A | NP_001341592.1:p.Ala234Thr | |
| NM_001354664.1:c.697G>A | NP_001341593.1:p.Ala233Thr | |
| XR_001740158.2:n.1463G>A | ||
| XR_001740159.2:n.1298G>A | ||
| NM_001354663.2:c.700G>A | NP_001341592.1:p.Ala234Thr | |
| NM_001354664.2:c.697G>A | NP_001341593.1:p.Ala233Thr | |
| NM_130831.3:c.961G>A | NP_570844.1:p.Ala321Thr | |
| NM_130832.3:c.1015G>A | NP_570845.1:p.Ala339Thr | |
| NM_130834.3:c.1123G>A | NP_570847.2:p.Ala375Thr | |
| NM_130836.3:c.1180G>A | NP_570849.2:p.Ala394Thr | |
| NM_015560.3:c.1069G>A | NP_056375.2:p.Ala357Thr | |
| NM_130833.3:c.1072G>A | NP_570846.1:p.Ala358Thr | |
| NM_130835.3:c.1126G>A | NP_570848.1:p.Ala376Thr | |
| NM_130837.3:c.1234G>A MANE Select | NP_570850.2:p.Ala412Thr |