Linked Data
ClinVar Variation Id:
1400268
ClinVar RCV Id:
RCV001932676
dbSNP Id:
rs1560365123
MyVariant Identifiers:
chr3:g.193355854G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193638065G>A , CM000665.2:g.193638065G>A | GRCh38 |
| NC_000003.11:g.193355854G>A , CM000665.1:g.193355854G>A | GRCh37 |
| NC_000003.10:g.194838548G>A | NCBI36 |
| NG_011605.1:g.49922G>A , LRG_337:g.49922G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1149G>A MANE Select | ENSP00000355324.2:p.Lys383= | |
| ENST00000361828.7:c.984G>A | ENSP00000354429.3:p.Lys328= | |
| ENST00000361908.8:c.1095G>A | ENSP00000354681.3:p.Lys365= | |
| ENST00000392436.7:c.984G>A | ENSP00000376231.3:p.Lys328= | |
| ENST00000392437.6:c.1038G>A | ENSP00000376232.2:p.Lys346= | |
| ENST00000642289.1:c.1079G>A | ||
| ENST00000642445.1:c.984G>A | ENSP00000495535.1:p.Lys328= | |
| ENST00000642593.1:c.984G>A | ENSP00000494273.1:p.Lys328= | |
| ENST00000643329.1:c.666G>A | ENSP00000493673.1:p.Lys222= | |
| ENST00000643737.1:c.*1065G>A | ENSP00000494210.1:n.*1065G>A | |
| ENST00000644595.1:c.984G>A | ENSP00000494121.1:p.Lys328= | |
| ENST00000644629.1:c.644G>A | ||
| ENST00000644841.1:c.612G>A | ENSP00000493988.1:p.Lys204= | |
| ENST00000644959.1:c.953G>A | ||
| ENST00000645553.1:c.999G>A | ENSP00000494725.1:p.Lys333= | |
| ENST00000646085.1:c.*462G>A | ENSP00000494509.1:n.*462G>A | |
| ENST00000646277.1:c.1149G>A | ENSP00000495289.1:p.Lys383= | |
| ENST00000646544.1:c.47G>A | ||
| ENST00000646699.1:c.1079G>A | ||
| ENST00000646793.1:c.876G>A | ENSP00000494512.1:p.Lys292= | |
| ENST00000361150.6:c.987G>A | ENSP00000354781.2:p.Lys329= | |
| ENST00000361510.6:c.1149G>A | ENSP00000355324.2:p.Lys383= | |
| ENST00000361715.6:c.1041G>A | ENSP00000355311.2:p.Lys347= | |
| ENST00000361828.6:c.1038G>A | ENSP00000354429.2:p.Lys346= | |
| ENST00000361908.7:c.1095G>A | ENSP00000354681.3:p.Lys365= | |
| ENST00000392438.7:c.984G>A | ENSP00000376233.3:p.Lys328= | |
| ENST00000475899.1:n.180G>A | ||
| ENST00000497189.5:n.470G>A | ||
| NM_015560.2:c.984G>A , LRG_337t1:c.984G>A | NP_056375.2:p.Lys328= | |
| NM_130831.2:c.876G>A | NP_570844.1:p.Lys292= | |
| NM_130832.2:c.930G>A | NP_570845.1:p.Lys310= | |
| NM_130833.2:c.987G>A | NP_570846.1:p.Lys329= | |
| NM_130834.2:c.1038G>A | NP_570847.2:p.Lys346= | |
| NM_130835.2:c.1041G>A | NP_570848.1:p.Lys347= | |
| NM_130836.2:c.1095G>A | NP_570849.2:p.Lys365= | |
| NM_130837.2:c.1149G>A , LRG_337t2:c.1149G>A | NP_570850.2:p.Lys383= | |
| XM_011512863.1:c.1149G>A | XP_011511165.1:p.Lys383= | |
| XM_011512864.1:c.1095G>A | XP_011511166.1:p.Lys365= | |
| XM_011512865.1:c.1038G>A | XP_011511167.1:p.Lys346= | |
| XM_011512866.1:c.987G>A | XP_011511168.1:p.Lys329= | |
| XM_011512867.1:c.984G>A | XP_011511169.1:p.Lys328= | |
| XM_011512868.1:c.876G>A | XP_011511170.1:p.Lys292= | |
| XM_011512869.1:c.1149G>A | XP_011511171.1:p.Lys383= | |
| NM_001354663.1:c.615G>A | NP_001341592.1:p.Lys205= | |
| NM_001354664.1:c.612G>A | NP_001341593.1:p.Lys204= | |
| XR_001740158.2:n.1378G>A | ||
| XR_001740159.2:n.1213G>A | ||
| NM_001354663.2:c.615G>A | NP_001341592.1:p.Lys205= | |
| NM_001354664.2:c.612G>A | NP_001341593.1:p.Lys204= | |
| NM_130831.3:c.876G>A | NP_570844.1:p.Lys292= | |
| NM_130832.3:c.930G>A | NP_570845.1:p.Lys310= | |
| NM_130834.3:c.1038G>A | NP_570847.2:p.Lys346= | |
| NM_130836.3:c.1095G>A | NP_570849.2:p.Lys365= | |
| NM_015560.3:c.984G>A | NP_056375.2:p.Lys328= | |
| NM_130833.3:c.987G>A | NP_570846.1:p.Lys329= | |
| NM_130835.3:c.1041G>A | NP_570848.1:p.Lys347= | |
| NM_130837.3:c.1149G>A MANE Select | NP_570850.2:p.Lys383= |