Linked Data
ClinVar Variation Id:
95726
dbSNP Id:
rs75414918
ExAC:
3:193332522 C / A
gnomAD v2:
3-193332522-C-A
gnomAD v3:
3-193614733-C-A
gnomAD v4:
3-193614733-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193614733C>A , CM000665.2:g.193614733C>A | GRCh38 |
| NC_000003.11:g.193332522C>A , CM000665.1:g.193332522C>A | GRCh37 |
| NC_000003.10:g.194815216C>A | NCBI36 |
| NG_011605.1:g.26590C>A , LRG_337:g.26590C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.43C>A MANE Select | ENSP00000355324.2:p.Gln15Lys | |
| ENST00000361828.7:c.43C>A | ENSP00000354429.3:p.Gln15Lys | |
| ENST00000361908.8:c.43C>A | ENSP00000354681.3:p.Gln15Lys | |
| ENST00000392436.7:c.43C>A | ENSP00000376231.3:p.Gln15Lys | |
| ENST00000392437.6:c.43C>A | ENSP00000376232.2:p.Gln15Lys | |
| ENST00000642445.1:c.43C>A | ENSP00000495535.1:p.Gln15Lys | |
| ENST00000642593.1:c.43C>A | ENSP00000494273.1:p.Gln15Lys | |
| ENST00000643329.1:c.-330C>A | ENSP00000493673.1:n.-330C>A | |
| ENST00000643737.1:c.*70C>A | ENSP00000494210.1:n.*70C>A | |
| ENST00000644595.1:c.43C>A | ENSP00000494121.1:p.Gln15Lys | |
| ENST00000644841.1:c.-330C>A | ENSP00000493988.1:n.-330C>A | |
| ENST00000644959.1:c.12C>A | ||
| ENST00000645553.1:c.43C>A | ENSP00000494725.1:p.Gln15Lys | |
| ENST00000646085.1:c.43C>A | ENSP00000494509.1:p.Gln15Lys | |
| ENST00000646277.1:c.43C>A | ENSP00000495289.1:p.Gln15Lys | |
| ENST00000646793.1:c.43C>A | ENSP00000494512.1:p.Gln15Lys | |
| ENST00000361150.6:c.43C>A | ENSP00000354781.2:p.Gln15Lys | |
| ENST00000361510.6:c.43C>A | ENSP00000355324.2:p.Gln15Lys | |
| ENST00000361715.6:c.43C>A | ENSP00000355311.2:p.Gln15Lys | |
| ENST00000361828.6:c.43C>A | ENSP00000354429.2:p.Gln15Lys | |
| ENST00000361908.7:c.43C>A | ENSP00000354681.3:p.Gln15Lys | |
| ENST00000392436.6:c.43C>A | ENSP00000376231.2:p.Gln15Lys | |
| ENST00000392437.5:c.43C>A | ENSP00000376232.1:p.Gln15Lys | |
| ENST00000392438.7:c.43C>A | ENSP00000376233.3:p.Gln15Lys | |
| ENST00000419435.5:c.-330C>A | ENSP00000399877.1:n.-330C>A | |
| NM_015560.2:c.43C>A , LRG_337t1:c.43C>A | NP_056375.2:p.Gln15Lys | |
| NM_130831.2:c.43C>A | NP_570844.1:p.Gln15Lys | |
| NM_130832.2:c.43C>A | NP_570845.1:p.Gln15Lys | |
| NM_130833.2:c.43C>A | NP_570846.1:p.Gln15Lys | |
| NM_130834.2:c.43C>A | NP_570847.2:p.Gln15Lys | |
| NM_130835.2:c.43C>A | NP_570848.1:p.Gln15Lys | |
| NM_130836.2:c.43C>A | NP_570849.2:p.Gln15Lys | |
| NM_130837.2:c.43C>A , LRG_337t2:c.43C>A | NP_570850.2:p.Gln15Lys | |
| XM_011512863.1:c.43C>A | XP_011511165.1:p.Gln15Lys | |
| XM_011512864.1:c.43C>A | XP_011511166.1:p.Gln15Lys | |
| XM_011512865.1:c.43C>A | XP_011511167.1:p.Gln15Lys | |
| XM_011512866.1:c.43C>A | XP_011511168.1:p.Gln15Lys | |
| XM_011512867.1:c.43C>A | XP_011511169.1:p.Gln15Lys | |
| XM_011512868.1:c.43C>A | XP_011511170.1:p.Gln15Lys | |
| XM_011512869.1:c.43C>A | XP_011511171.1:p.Gln15Lys | |
| NM_001354663.1:c.-330C>A | NP_001341592.1:n.-330C>A | |
| NM_001354664.1:c.-330C>A | NP_001341593.1:n.-330C>A | |
| XR_001740158.2:n.272C>A | ||
| XR_001740159.2:n.272C>A | ||
| NM_001354663.2:c.-330C>A | NP_001341592.1:n.-330C>A | |
| NM_001354664.2:c.-330C>A | NP_001341593.1:n.-330C>A | |
| NM_130831.3:c.43C>A | NP_570844.1:p.Gln15Lys | |
| NM_130832.3:c.43C>A | NP_570845.1:p.Gln15Lys | |
| NM_130834.3:c.43C>A | NP_570847.2:p.Gln15Lys | |
| NM_130836.3:c.43C>A | NP_570849.2:p.Gln15Lys | |
| NM_015560.3:c.43C>A | NP_056375.2:p.Gln15Lys | |
| NM_130833.3:c.43C>A | NP_570846.1:p.Gln15Lys | |
| NM_130835.3:c.43C>A | NP_570848.1:p.Gln15Lys | |
| NM_130837.3:c.43C>A MANE Select | NP_570850.2:p.Gln15Lys |