Linked Data
dbSNP Id:
rs751806375
ExAC:
11:2466539 G / A
gnomAD v2:
11-2466539-G-A
gnomAD v4:
11-2445309-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445309G>A , CM000673.2:g.2445309G>A | GRCh38 |
| NC_000011.9:g.2466539G>A , CM000673.1:g.2466539G>A | GRCh37 |
| NC_000011.8:g.2423115G>A | NCBI36 |
| NG_008935.1:g.5319G>A , LRG_287:g.5319G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.24-74G>A | ENSP00000434560.2:n.24-74G>A | |
| ENST00000646564.2:c.211G>A | ENSP00000495806.2:p.Ala71Thr | |
| ENST00000155840.12:c.211G>A MANE Select | ENSP00000155840.2:p.Ala71Thr | |
| ENST00000155840.9:c.211G>A | ENSP00000155840.2:p.Ala71Thr | |
| ENST00000496887.6:c.24-74G>A | ENSP00000434560.1:n.24-74G>A | |
| NM_000218.2:c.211G>A , LRG_287t1:c.211G>A | NP_000209.2:p.Ala71Thr | |
| NM_000218.3:c.211G>A MANE Select | NP_000209.2:p.Ala71Thr |