Linked Data
ClinVar Variation Id:
1907740
ClinVar RCV Id:
RCV002581025
dbSNP Id:
rs191603815
gnomAD v2:
3-48605215-G-T
gnomAD v4:
3-48567782-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48567782G>T , CM000665.2:g.48567782G>T | GRCh38 |
| NC_000003.11:g.48605215G>T , CM000665.1:g.48605215G>T | GRCh37 |
| NC_000003.10:g.48580219G>T | NCBI36 |
| NG_007065.1:g.32471C>A , LRG_286:g.32471C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7930-19C>A MANE Select | ENSP00000506558.1:n.7930-19C>A | |
| ENST00000328333.12:c.7930-19C>A | ENSP00000332371.8:n.7930-19C>A | |
| ENST00000459756.5:n.753-19C>A | ||
| ENST00000487017.5:n.4569-19C>A | ||
| NM_000094.3:c.7930-19C>A , LRG_286t1:c.7930-19C>A | NP_000085.1:n.7930-19C>A | |
| XM_011533336.1:c.7957-19C>A | XP_011531638.1:n.7957-19C>A | |
| XM_011533337.1:c.7930-19C>A | XP_011531639.1:n.7930-19C>A | |
| XM_011533338.1:c.7897-19C>A | XP_011531640.1:n.7897-19C>A | |
| XR_940369.1:n.7993-19C>A | ||
| XR_940370.1:n.7993-19C>A | ||
| XR_940371.1:n.7993-19C>A | ||
| XM_017005688.1:c.7870-19C>A | XP_016861177.1:n.7870-19C>A | |
| XR_001740003.1:n.7966-19C>A | ||
| XR_001740004.1:n.7966-19C>A | ||
| XR_001740005.1:n.7966-19C>A | ||
| NM_000094.4:c.7930-19C>A MANE Select | NP_000085.1:n.7930-19C>A |