Linked Data
ClinVar Variation Id:
511117
dbSNP Id:
rs750971227
ExAC:
18:28648926 C / T
gnomAD v2:
18-28648926-C-T
gnomAD v4:
18-31068960-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31068960C>T , CM000680.2:g.31068960C>T | GRCh38 |
| NC_000018.9:g.28648926C>T , CM000680.1:g.28648926C>T | GRCh37 |
| NC_000018.8:g.26902924C>T | NCBI36 |
| NG_008208.2:g.38466G>A , LRG_400:g.38466G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.2013G>A | ENSP00000507826.1:p.Thr671= | |
| ENST00000251081.8:c.2442G>A | ENSP00000251081.6:p.Thr814= | |
| ENST00000280904.11:c.2442G>A MANE Select | ENSP00000280904.6:p.Thr814= | |
| ENST00000648081.1:c.2013G>A | ENSP00000497441.1:p.Thr671= | |
| ENST00000251081.6:c.2442G>A | ENSP00000251081.6:p.Thr814= | |
| ENST00000280904.10:c.2442G>A | ENSP00000280904.6:p.Thr814= | |
| NM_004949.4:c.2442G>A | NP_004940.1:p.Thr814= | |
| NM_024422.4:c.2442G>A | NP_077740.1:p.Thr814= | |
| XM_005258206.3:c.2013G>A | XP_005258263.1:p.Thr671= | |
| XM_005258206.4:c.2013G>A | XP_005258263.1:p.Thr671= | |
| NM_004949.5:c.2442G>A | NP_004940.1:p.Thr814= | |
| NM_024422.6:c.2442G>A MANE Select | NP_077740.1:p.Thr814= |