Linked Data
ClinVar Variation Id:
2179407
ClinVar RCV Id:
RCV002599044
dbSNP Id:
rs763852342
ExAC:
3:48607759 A / C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48570326A>C , CM000665.2:g.48570326A>C | GRCh38 |
| NC_000003.11:g.48607759A>C , CM000665.1:g.48607759A>C | GRCh37 |
| NC_000003.10:g.48582763A>C | NCBI36 |
| NG_007065.1:g.29927T>G , LRG_286:g.29927T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681320.1:c.7389T>G MANE Select | ENSP00000506558.1:p.Pro2463= | |
| ENST00000328333.12:c.7389T>G | ENSP00000332371.8:p.Pro2463= | |
| ENST00000422991.1:c.384T>G | ENSP00000391608.1:p.Pro128= | |
| ENST00000459756.5:n.116T>G | ||
| ENST00000467985.1:n.139T>G | ||
| ENST00000487017.5:n.4028T>G | ||
| NM_000094.3:c.7389T>G , LRG_286t1:c.7389T>G | NP_000085.1:p.Pro2463= | |
| XM_011533336.1:c.7416T>G | XP_011531638.1:p.Pro2472= | |
| XM_011533337.1:c.7389T>G | XP_011531639.1:p.Pro2463= | |
| XM_011533338.1:c.7407+139T>G | XP_011531640.1:n.7407+139T>G | |
| XM_011533339.1:c.7416T>G | XP_011531641.1:p.Pro2472= | |
| XM_011533340.1:c.7408-74T>G | XP_011531642.1:n.7408-74T>G | |
| XM_011533341.1:c.7382-74T>G | XP_011531643.1:n.7382-74T>G | |
| XM_011533342.1:c.7381+139T>G | XP_011531644.1:n.7381+139T>G | |
| XR_940369.1:n.7452T>G | ||
| XR_940370.1:n.7452T>G | ||
| XR_940371.1:n.7452T>G | ||
| XR_940372.1:n.7426T>G | ||
| XM_017005688.1:c.7380+139T>G | XP_016861177.1:n.7380+139T>G | |
| XM_017005689.1:c.7389T>G | XP_016861178.1:p.Pro2463= | |
| XM_017005690.1:c.7381-74T>G | XP_016861179.1:n.7381-74T>G | |
| XM_017005691.1:c.7355-74T>G | XP_016861180.1:n.7355-74T>G | |
| XM_017005692.1:c.7354+139T>G | XP_016861181.1:n.7354+139T>G | |
| XR_001740003.1:n.7425T>G | ||
| XR_001740004.1:n.7425T>G | ||
| XR_001740005.1:n.7425T>G | ||
| XR_001740006.1:n.7399T>G | ||
| NM_000094.4:c.7389T>G MANE Select | NP_000085.1:p.Pro2463= |