Linked Data
dbSNP Id:
rs374778393
ExAC:
3:48605109 G / A
gnomAD v2:
3-48605109-G-A
gnomAD v3:
3-48567676-G-A
gnomAD v4:
3-48567676-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48567676G>A , CM000665.2:g.48567676G>A | GRCh38 |
| NC_000003.11:g.48605109G>A , CM000665.1:g.48605109G>A | GRCh37 |
| NC_000003.10:g.48580113G>A | NCBI36 |
| NG_007065.1:g.32577C>T , LRG_286:g.32577C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7983+34C>T MANE Select | ENSP00000506558.1:n.7983+34C>T | |
| ENST00000328333.12:c.7983+34C>T | ENSP00000332371.8:n.7983+34C>T | |
| ENST00000487017.5:n.4622+34C>T | ||
| NM_000094.3:c.7983+34C>T , LRG_286t1:c.7983+34C>T | NP_000085.1:n.7983+34C>T | |
| XM_011533336.1:c.8010+34C>T | XP_011531638.1:n.8010+34C>T | |
| XM_011533337.1:c.7983+34C>T | XP_011531639.1:n.7983+34C>T | |
| XM_011533338.1:c.7950+34C>T | XP_011531640.1:n.7950+34C>T | |
| XR_940369.1:n.8046+34C>T | ||
| XR_940370.1:n.8046+34C>T | ||
| XR_940371.1:n.8046+34C>T | ||
| XM_017005688.1:c.7923+34C>T | XP_016861177.1:n.7923+34C>T | |
| XR_001740003.1:n.8019+34C>T | ||
| XR_001740004.1:n.8019+34C>T | ||
| XR_001740005.1:n.8019+34C>T | ||
| NM_000094.4:c.7983+34C>T MANE Select | NP_000085.1:n.7983+34C>T |