Linked Data
ClinVar Variation Id:
2080747
dbSNP Id:
rs1266445232
gnomAD v2:
5-112176010-A-C
gnomAD v3:
5-112840313-A-C
gnomAD v4:
5-112840313-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840313A>C , CM000667.2:g.112840313A>C | GRCh38 |
| NC_000005.9:g.112176010A>C , CM000667.1:g.112176010A>C | GRCh37 |
| NC_000005.8:g.112203909A>C | NCBI36 |
| NG_008481.4:g.152793A>C , LRG_130:g.152793A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4773A>C | ENSP00000473355.2:p.Glu1591Asp | |
| ENST00000505350.2:c.*4725A>C | ENSP00000481752.1:n.*4725A>C | |
| ENST00000507379.6:c.4665A>C | ENSP00000423224.2:p.Glu1555Asp | |
| ENST00000509732.6:c.4719A>C | ENSP00000426541.2:p.Glu1573Asp | |
| ENST00000512211.7:c.4719A>C | ENSP00000423828.3:p.Glu1573Asp | |
| ENST00000257430.9:c.4719A>C MANE Select | ENSP00000257430.4:p.Glu1573Asp | |
| ENST00000257430.8:c.4719A>C | ENSP00000257430.4:p.Glu1573Asp | |
| ENST00000508376.6:c.4719A>C | ENSP00000427089.2:p.Glu1573Asp | |
| ENST00000508624.5:c.*4041A>C | ENSP00000424265.1:n.*4041A>C | |
| ENST00000520401.1:c.230+11341A>C | ||
| NM_000038.5:c.4719A>C | NP_000029.2:p.Glu1573Asp | |
| NM_001127510.2:c.4719A>C | NP_001120982.1:p.Glu1573Asp | |
| NM_001127511.2:c.4665A>C | NP_001120983.2:p.Glu1555Asp | |
| NM_001354895.1:c.4719A>C | NP_001341824.1:p.Glu1573Asp | |
| NM_001354896.1:c.4773A>C | NP_001341825.1:p.Glu1591Asp | |
| NM_001354897.1:c.4749A>C | NP_001341826.1:p.Glu1583Asp | |
| NM_001354898.1:c.4644A>C | NP_001341827.1:p.Glu1548Asp | |
| NM_001354899.1:c.4635A>C | NP_001341828.1:p.Glu1545Asp | |
| NM_001354900.1:c.4596A>C | NP_001341829.1:p.Glu1532Asp | |
| NM_001354901.1:c.4542A>C | NP_001341830.1:p.Glu1514Asp | |
| NM_001354902.1:c.4446A>C | NP_001341831.1:p.Glu1482Asp | |
| NM_001354903.1:c.4416A>C | NP_001341832.1:p.Glu1472Asp | |
| NM_001354904.1:c.4341A>C | NP_001341833.1:p.Glu1447Asp | |
| NM_001354905.1:c.4239A>C | NP_001341834.1:p.Glu1413Asp | |
| NM_001354906.1:c.3870A>C | NP_001341835.1:p.Glu1290Asp | |
| NM_000038.6:c.4719A>C MANE Select | NP_000029.2:p.Glu1573Asp | |
| NM_001127510.3:c.4719A>C | NP_001120982.1:p.Glu1573Asp | |
| NM_001127511.3:c.4665A>C | NP_001120983.2:p.Glu1555Asp | |
| NM_001354895.2:c.4719A>C | NP_001341824.1:p.Glu1573Asp | |
| NM_001354896.2:c.4773A>C | NP_001341825.1:p.Glu1591Asp | |
| NM_001354897.2:c.4749A>C | NP_001341826.1:p.Glu1583Asp | |
| NM_001354898.2:c.4644A>C | NP_001341827.1:p.Glu1548Asp | |
| NM_001354899.2:c.4635A>C | NP_001341828.1:p.Glu1545Asp | |
| NM_001354900.2:c.4596A>C | NP_001341829.1:p.Glu1532Asp | |
| NM_001354901.2:c.4542A>C | NP_001341830.1:p.Glu1514Asp | |
| NM_001354902.2:c.4446A>C | NP_001341831.1:p.Glu1482Asp | |
| NM_001354903.2:c.4416A>C | NP_001341832.1:p.Glu1472Asp | |
| NM_001354904.2:c.4341A>C | NP_001341833.1:p.Glu1447Asp | |
| NM_001354905.2:c.4239A>C | NP_001341834.1:p.Glu1413Asp | |
| NM_001354906.2:c.3870A>C | NP_001341835.1:p.Glu1290Asp |