Linked Data
ClinVar Variation Id:
1320726
ClinVar RCV Id:
RCV001776705
dbSNP Id:
rs758248456
ExAC:
3:193380634 T / A
gnomAD v2:
3-193380634-T-A
gnomAD v4:
3-193662845-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193662845T>A , CM000665.2:g.193662845T>A | GRCh38 |
| NC_000003.11:g.193380634T>A , CM000665.1:g.193380634T>A | GRCh37 |
| NC_000003.10:g.194863328T>A | NCBI36 |
| NG_011605.1:g.74702T>A , LRG_337:g.74702T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.2544T>A MANE Select | ENSP00000355324.2:p.Asn848Lys | |
| ENST00000361828.7:c.2379T>A | ENSP00000354429.3:p.Asn793Lys | |
| ENST00000361908.8:c.2490T>A | ENSP00000354681.3:p.Asn830Lys | |
| ENST00000392436.7:c.2379T>A | ENSP00000376231.3:p.Asn793Lys | |
| ENST00000392437.6:c.2433T>A | ENSP00000376232.2:p.Asn811Lys | |
| ENST00000642289.1:c.2318T>A | ||
| ENST00000642445.1:c.2379T>A | ENSP00000495535.1:p.Asn793Lys | |
| ENST00000642593.1:c.*604T>A | ENSP00000494273.1:n.*604T>A | |
| ENST00000643329.1:c.2061T>A | ENSP00000493673.1:p.Asn687Lys | |
| ENST00000643737.1:c.*2460T>A | ENSP00000494210.1:n.*2460T>A | |
| ENST00000644595.1:c.2379T>A | ENSP00000494121.1:p.Asn793Lys | |
| ENST00000644629.1:c.1966T>A | ||
| ENST00000644841.1:c.*863T>A | ENSP00000493988.1:n.*863T>A | |
| ENST00000644959.1:c.2373T>A | ||
| ENST00000645553.1:c.2394T>A | ENSP00000494725.1:p.Asn798Lys | |
| ENST00000646085.1:c.*1857T>A | ENSP00000494509.1:n.*1857T>A | |
| ENST00000646277.1:c.*980T>A | ENSP00000495289.1:n.*980T>A | |
| ENST00000646544.1:c.1367T>A | ||
| ENST00000646699.1:c.2318T>A | ||
| ENST00000646793.1:c.2271T>A | ENSP00000494512.1:p.Asn757Lys | |
| ENST00000361150.6:c.2382T>A | ENSP00000354781.2:p.Asn794Lys | |
| ENST00000361510.6:c.2544T>A | ENSP00000355324.2:p.Asn848Lys | |
| ENST00000361715.6:c.2436T>A | ENSP00000355311.2:p.Asn812Lys | |
| ENST00000361828.6:c.2433T>A | ENSP00000354429.2:p.Asn811Lys | |
| ENST00000361908.7:c.2490T>A | ENSP00000354681.3:p.Asn830Lys | |
| ENST00000392438.7:c.2379T>A | ENSP00000376233.3:p.Asn793Lys | |
| NM_015560.2:c.2379T>A , LRG_337t1:c.2379T>A | NP_056375.2:p.Asn793Lys | |
| NM_130831.2:c.2271T>A | NP_570844.1:p.Asn757Lys | |
| NM_130832.2:c.2325T>A | NP_570845.1:p.Asn775Lys | |
| NM_130833.2:c.2382T>A | NP_570846.1:p.Asn794Lys | |
| NM_130834.2:c.2433T>A | NP_570847.2:p.Asn811Lys | |
| NM_130835.2:c.2436T>A | NP_570848.1:p.Asn812Lys | |
| NM_130836.2:c.2490T>A | NP_570849.2:p.Asn830Lys | |
| NM_130837.2:c.2544T>A , LRG_337t2:c.2544T>A | NP_570850.2:p.Asn848Lys | |
| XM_011512863.1:c.2544T>A | XP_011511165.1:p.Asn848Lys | |
| XM_011512864.1:c.2490T>A | XP_011511166.1:p.Asn830Lys | |
| XM_011512865.1:c.2433T>A | XP_011511167.1:p.Asn811Lys | |
| XM_011512866.1:c.2382T>A | XP_011511168.1:p.Asn794Lys | |
| XM_011512867.1:c.2379T>A | XP_011511169.1:p.Asn793Lys | |
| XM_011512868.1:c.2271T>A | XP_011511170.1:p.Asn757Lys | |
| XR_924835.1:n.582+6075A>T | ||
| NM_001354663.1:c.2010T>A | NP_001341592.1:p.Asn670Lys | |
| NM_001354664.1:c.2007T>A | NP_001341593.1:p.Asn669Lys | |
| XR_001740158.2:n.2798T>A | ||
| XR_001740159.2:n.2633T>A | ||
| XR_001741072.1:n.601-2760A>T | ||
| XR_001741074.1:n.475+7963A>T | ||
| XR_924835.2:n.600+6075A>T | ||
| NM_001354663.2:c.2010T>A | NP_001341592.1:p.Asn670Lys | |
| NM_001354664.2:c.2007T>A | NP_001341593.1:p.Asn669Lys | |
| NM_130831.3:c.2271T>A | NP_570844.1:p.Asn757Lys | |
| NM_130832.3:c.2325T>A | NP_570845.1:p.Asn775Lys | |
| NM_130834.3:c.2433T>A | NP_570847.2:p.Asn811Lys | |
| NM_130836.3:c.2490T>A | NP_570849.2:p.Asn830Lys | |
| NM_015560.3:c.2379T>A | NP_056375.2:p.Asn793Lys | |
| NM_130833.3:c.2382T>A | NP_570846.1:p.Asn794Lys | |
| NM_130835.3:c.2436T>A | NP_570848.1:p.Asn812Lys | |
| NM_130837.3:c.2544T>A MANE Select | NP_570850.2:p.Asn848Lys |