Linked Data
ClinVar Variation Id:
2173276
ClinVar RCV Id:
RCV002581831
dbSNP Id:
rs374975158
ExAC:
11:45827607 G / A
gnomAD v2:
11-45827607-G-A
gnomAD v3:
11-45806056-G-A
gnomAD v4:
11-45806056-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45806056G>A , CM000673.2:g.45806056G>A | GRCh38 |
| NC_000011.9:g.45827607G>A , CM000673.1:g.45827607G>A | GRCh37 |
| NC_000011.8:g.45784183G>A | NCBI36 |
| NG_009875.1:g.6985G>A , LRG_107:g.6985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.216G>A | ENSP00000432145.2:p.Thr72= | |
| ENST00000314134.4:c.255G>A MANE Select | ENSP00000313318.3:p.Thr85= | |
| ENST00000314134.3:c.255G>A | ENSP00000313318.3:p.Thr85= | |
| ENST00000442528.2:c.216G>A | ENSP00000412408.2:p.Thr72= | |
| ENST00000526817.1:c.216G>A | ENSP00000432145.1:p.Thr72= | |
| ENST00000530471.1:c.216G>A | ENSP00000432669.1:p.Thr72= | |
| NM_001145265.1:c.216G>A | NP_001138737.1:p.Thr72= | |
| NM_001145266.1:c.216G>A | NP_001138738.1:p.Thr72= | |
| NM_018389.4:c.255G>A , LRG_107t1:c.255G>A | NP_060859.4:p.Thr85= | |
| XM_011520203.1:c.255G>A | XP_011518505.1:p.Thr85= | |
| XM_011520203.3:c.255G>A | XP_011518505.1:p.Thr85= | |
| NM_001145265.2:c.216G>A | NP_001138737.1:p.Thr72= | |
| NM_018389.5:c.255G>A MANE Select | NP_060859.4:p.Thr85= |