Linked Data
dbSNP Id:
rs1196082427
gnomAD v2:
1-151378302-T-G
gnomAD v3:
1-151405826-T-G
gnomAD v4:
1-151405826-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151405826T>G , CM000663.2:g.151405826T>G | GRCh38 |
| NC_000001.10:g.151378302T>G , CM000663.1:g.151378302T>G | GRCh37 |
| NC_000001.9:g.149644926T>G | NCBI36 |
| NG_046601.1:g.58640A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710270.1:c.3257A>C | ENSP00000518163.1:p.Glu1086Ala | |
| ENST00000392723.6:c.3050A>C | ENSP00000376484.1:p.Glu1017Ala | |
| ENST00000439756.2:c.3209A>C | ENSP00000390156.2:p.Glu1070Ala | |
| ENST00000703168.1:c.3230A>C | ENSP00000515214.1:p.Glu1077Ala | |
| ENST00000271715.7:c.3209A>C MANE Select | ENSP00000271715.2:p.Glu1070Ala | |
| ENST00000271715.6:c.3209A>C | ENSP00000271715.2:p.Glu1070Ala | |
| ENST00000358476.7:n.3357A>C | ||
| ENST00000368863.6:c.2924A>C | ENSP00000357856.2:p.Glu975Ala | |
| ENST00000392723.5:c.3050A>C | ENSP00000376484.1:p.Glu1017Ala | |
| ENST00000409503.5:c.3182A>C | ENSP00000386836.1:p.Glu1061Ala | |
| ENST00000491586.5:c.3077A>C | ENSP00000418408.1:p.Glu1026Ala | |
| ENST00000531094.5:c.3023A>C | ENSP00000431259.1:p.Glu1008Ala | |
| NM_001194937.1:c.3182A>C | NP_001181866.1:p.Glu1061Ala | |
| NM_001194938.1:c.3023A>C | NP_001181867.1:p.Glu1008Ala | |
| NM_015100.3:c.3209A>C | NP_055915.2:p.Glu1070Ala | |
| NM_145796.3:c.2924A>C | NP_665739.3:p.Glu975Ala | |
| NM_207171.2:c.3050A>C | NP_997054.1:p.Glu1017Ala | |
| XM_005244999.1:c.3209A>C | XP_005245056.1:p.Glu1070Ala | |
| XM_005245000.3:c.3209A>C | XP_005245057.1:p.Glu1070Ala | |
| XM_005245001.1:c.3209A>C | XP_005245058.1:p.Glu1070Ala | |
| XM_005245005.1:c.3050A>C | XP_005245062.1:p.Glu1017Ala | |
| XM_005245006.3:c.3050A>C | XP_005245063.1:p.Glu1017Ala | |
| XM_011509330.1:c.3101A>C | XP_011507632.1:p.Glu1034Ala | |
| XM_011509331.1:c.2852A>C | XP_011507633.1:p.Glu951Ala | |
| XM_005244999.3:c.3209A>C | XP_005245056.1:p.Glu1070Ala | |
| XM_005245000.4:c.3209A>C | XP_005245057.1:p.Glu1070Ala | |
| XM_005245001.2:c.3209A>C | XP_005245058.1:p.Glu1070Ala | |
| XM_005245005.2:c.3050A>C | XP_005245062.1:p.Glu1017Ala | |
| XM_005245006.5:c.3050A>C | XP_005245063.1:p.Glu1017Ala | |
| XM_017000744.1:c.3230A>C | XP_016856233.1:p.Glu1077Ala | |
| XM_017000745.2:c.3182A>C | XP_016856234.1:p.Glu1061Ala | |
| XM_017000746.1:c.3182A>C | XP_016856235.1:p.Glu1061Ala | |
| XM_017000748.1:c.3050A>C | XP_016856237.1:p.Glu1017Ala | |
| XM_017000749.1:c.3050A>C | XP_016856238.1:p.Glu1017Ala | |
| XM_024454305.1:c.3083A>C | XP_024310073.1:p.Glu1028Ala | |
| XM_024454306.1:c.2009A>C | XP_024310074.1:p.Glu670Ala | |
| XR_002959801.1:n.3064A>C | ||
| NM_015100.4:c.3209A>C MANE Select | NP_055915.2:p.Glu1070Ala | |
| NM_001194937.2:c.3182A>C | NP_001181866.1:p.Glu1061Ala | |
| NM_001194938.2:c.3023A>C | NP_001181867.1:p.Glu1008Ala | |
| NM_145796.4:c.2924A>C | NP_665739.3:p.Glu975Ala |