Linked Data
ClinVar Variation Id:
372349
dbSNP Id:
rs201728948
ExAC:
3:48608072 C / T
gnomAD v2:
3-48608072-C-T
gnomAD v3:
3-48570639-C-T
gnomAD v4:
3-48570639-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48570639C>T , CM000665.2:g.48570639C>T | GRCh38 |
| NC_000003.11:g.48608072C>T , CM000665.1:g.48608072C>T | GRCh37 |
| NC_000003.10:g.48583076C>T | NCBI36 |
| NG_007065.1:g.29614G>A , LRG_286:g.29614G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681320.1:c.7344G>A MANE Select | ENSP00000506558.1:p.Val2448= | |
| ENST00000328333.12:c.7344G>A | ENSP00000332371.8:p.Val2448= | |
| ENST00000422991.1:c.339G>A | ENSP00000391608.1:p.Val113= | |
| ENST00000467985.1:n.94G>A | ||
| ENST00000487017.5:n.3983G>A | ||
| NM_000094.3:c.7344G>A , LRG_286t1:c.7344G>A | NP_000085.1:p.Val2448= | |
| XM_011533336.1:c.7371G>A | XP_011531638.1:p.Val2457= | |
| XM_011533337.1:c.7344G>A | XP_011531639.1:p.Val2448= | |
| XM_011533338.1:c.7371G>A | XP_011531640.1:p.Val2457= | |
| XM_011533339.1:c.7371G>A | XP_011531641.1:p.Val2457= | |
| XM_011533340.1:c.7371G>A | XP_011531642.1:p.Val2457= | |
| XM_011533341.1:c.7345G>A | XP_011531643.1:p.Gly2449Arg | |
| XM_011533342.1:c.7345G>A | XP_011531644.1:p.Gly2449Arg | |
| XR_940369.1:n.7407G>A | ||
| XR_940370.1:n.7407G>A | ||
| XR_940371.1:n.7407G>A | ||
| XR_940372.1:n.7381G>A | ||
| XM_017005688.1:c.7344G>A | XP_016861177.1:p.Val2448= | |
| XM_017005689.1:c.7344G>A | XP_016861178.1:p.Val2448= | |
| XM_017005690.1:c.7344G>A | XP_016861179.1:p.Val2448= | |
| XM_017005691.1:c.7318G>A | XP_016861180.1:p.Gly2440Arg | |
| XM_017005692.1:c.7318G>A | XP_016861181.1:p.Gly2440Arg | |
| XR_001740003.1:n.7380G>A | ||
| XR_001740004.1:n.7380G>A | ||
| XR_001740005.1:n.7380G>A | ||
| XR_001740006.1:n.7354G>A | ||
| NM_000094.4:c.7344G>A MANE Select | NP_000085.1:p.Val2448= |