Linked Data
dbSNP Id:
rs370716433
ExAC:
3:48607664 A / C
gnomAD v2:
3-48607664-A-C
gnomAD v3:
3-48570231-A-C
gnomAD v4:
3-48570231-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48570231A>C , CM000665.2:g.48570231A>C | GRCh38 |
| NC_000003.11:g.48607664A>C , CM000665.1:g.48607664A>C | GRCh37 |
| NC_000003.10:g.48582668A>C | NCBI36 |
| NG_007065.1:g.30022T>G , LRG_286:g.30022T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681320.1:c.7440+44T>G MANE Select | ENSP00000506558.1:n.7440+44T>G | |
| ENST00000328333.12:c.7440+44T>G | ENSP00000332371.8:n.7440+44T>G | |
| ENST00000422991.1:c.435+44T>G | ENSP00000391608.1:n.435+44T>G | |
| ENST00000459756.5:n.211T>G | ||
| ENST00000467985.1:n.234T>G | ||
| ENST00000487017.5:n.4079+44T>G | ||
| NM_000094.3:c.7440+44T>G , LRG_286t1:c.7440+44T>G | NP_000085.1:n.7440+44T>G | |
| XM_011533336.1:c.7467+44T>G | XP_011531638.1:n.7467+44T>G | |
| XM_011533337.1:c.7440+44T>G | XP_011531639.1:n.7440+44T>G | |
| XM_011533338.1:c.7408-53T>G | XP_011531640.1:n.7408-53T>G | |
| XM_011533339.1:c.7467+44T>G | XP_011531641.1:n.7467+44T>G | |
| XM_011533340.1:c.7429T>G | XP_011531642.1:p.Ser2477Ala | |
| XM_011533341.1:c.7403T>G | XP_011531643.1:p.Leu2468Arg | |
| XM_011533342.1:c.7382-53T>G | XP_011531644.1:n.7382-53T>G | |
| XR_940369.1:n.7503+44T>G | ||
| XR_940370.1:n.7503+44T>G | ||
| XR_940371.1:n.7503+44T>G | ||
| XR_940372.1:n.7477+44T>G | ||
| XM_017005688.1:c.7381-53T>G | XP_016861177.1:n.7381-53T>G | |
| XM_017005689.1:c.7440+44T>G | XP_016861178.1:n.7440+44T>G | |
| XM_017005690.1:c.7402T>G | XP_016861179.1:p.Ser2468Ala | |
| XM_017005691.1:c.7376T>G | XP_016861180.1:p.Leu2459Arg | |
| XM_017005692.1:c.7355-53T>G | XP_016861181.1:n.7355-53T>G | |
| XR_001740003.1:n.7476+44T>G | ||
| XR_001740004.1:n.7476+44T>G | ||
| XR_001740005.1:n.7476+44T>G | ||
| XR_001740006.1:n.7450+44T>G | ||
| NM_000094.4:c.7440+44T>G MANE Select | NP_000085.1:n.7440+44T>G |