Linked Data
ClinVar Variation Id:
534539
dbSNP Id:
rs756537437
ExAC:
2:233399923 A / G
gnomAD v2:
2-233399923-A-G
gnomAD v4:
2-232535213-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232535213A>G , CM000664.2:g.232535213A>G | GRCh38 |
| NC_000002.11:g.233399923A>G , CM000664.1:g.233399923A>G | GRCh37 |
| NC_000002.10:g.233108167A>G | NCBI36 |
| NG_008028.1:g.14002A>G | |
| NG_012954.1:g.487A>G | |
| NG_012954.2:g.522A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1455A>G MANE Select | ENSP00000258385.3:p.Thr485= | |
| ENST00000258385.7:c.1455A>G | ENSP00000258385.3:p.Thr485= | |
| ENST00000441621.6:c.*637A>G | ENSP00000408819.2:n.*637A>G | |
| ENST00000446616.1:c.*1096A>G | ENSP00000410801.1:n.*1096A>G | |
| ENST00000543200.5:c.1410A>G | ENSP00000438380.1:p.Thr470= | |
| NM_000751.2:c.1455A>G | NP_000742.1:p.Thr485= | |
| NM_001256657.1:c.1410A>G | NP_001243586.1:p.Thr470= | |
| NM_001311195.1:c.873A>G | NP_001298124.1:p.Thr291= | |
| NM_001311196.1:c.1152A>G | NP_001298125.1:p.Thr384= | |
| NR_046333.1:c.-4294966096A>G | ||
| NR_046334.1:c.-4294965817A>G | ||
| XM_011510524.1:c.1074A>G | XP_011508826.1:p.Thr358= | |
| XM_011510524.2:c.1074A>G | XP_011508826.1:p.Thr358= | |
| NM_000751.3:c.1455A>G MANE Select | NP_000742.1:p.Thr485= | |
| NM_001311195.2:c.873A>G | NP_001298124.1:p.Thr291= | |
| NM_001311196.2:c.1152A>G | NP_001298125.1:p.Thr384= | |
| NM_001256657.2:c.1410A>G | NP_001243586.1:p.Thr470= |