Linked Data
dbSNP Id:
rs753349051
gnomAD v2:
11-18428746-T-A
gnomAD v3:
11-18407199-T-A
gnomAD v4:
11-18407199-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18407199T>A , CM000673.2:g.18407199T>A | GRCh38 |
| NC_000011.9:g.18428746T>A , CM000673.1:g.18428746T>A | GRCh37 |
| NC_000011.8:g.18385322T>A | NCBI36 |
| NG_008185.1:g.17765T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.917T>A MANE Select | ENSP00000395337.3:p.Val306Glu | |
| ENST00000227157.8:c.*67T>A | ENSP00000227157.4:n.*67T>A | |
| ENST00000375710.7:n.1784T>A | ||
| ENST00000379412.9:c.917T>A | ENSP00000368722.5:p.Val306Glu | |
| ENST00000396222.6:c.688-40T>A | ENSP00000379524.2:n.688-40T>A | |
| ENST00000422447.7:c.917T>A | ENSP00000395337.3:p.Val306Glu | |
| ENST00000430553.6:c.743T>A | ENSP00000406172.2:p.Val248Glu | |
| ENST00000538451.1:n.804T>A | ||
| ENST00000540430.5:c.1004T>A | ENSP00000445175.1:p.Val335Glu | |
| ENST00000542179.1:c.917T>A | ENSP00000445331.1:p.Val306Glu | |
| ENST00000545215.5:c.*661T>A | ENSP00000442637.1:n.*661T>A | |
| NM_001135239.1:c.743T>A | NP_001128711.1:p.Val248Glu | |
| NM_001165414.1:c.1004T>A | NP_001158886.1:p.Val335Glu | |
| NM_001165415.1:c.688-40T>A | NP_001158887.1:n.688-40T>A | |
| NM_001165416.1:c.*67T>A | NP_001158888.1:n.*67T>A | |
| NM_005566.3:c.917T>A | NP_005557.1:p.Val306Glu | |
| NR_028500.1:n.1071T>A | ||
| NM_005566.4:c.917T>A MANE Select | NP_005557.1:p.Val306Glu | |
| NM_001165415.2:c.688-40T>A | NP_001158887.1:n.688-40T>A | |
| NM_001135239.2:c.743T>A | NP_001128711.1:p.Val248Glu | |
| NM_001165414.2:c.1004T>A | NP_001158886.1:p.Val335Glu | |
| NM_001165416.2:c.*67T>A | NP_001158888.1:n.*67T>A | |
| NR_028500.2:n.897T>A |