Linked Data
ClinVar Variation Id:
392906
ClinVar RCV Id:
RCV000442634
dbSNP Id:
rs1057524695
gnomAD v4:
19-35831049-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35831049T>A , CM000681.2:g.35831049T>A | GRCh38 |
| NC_000019.9:g.36321951T>A , CM000681.1:g.36321951T>A | GRCh37 |
| NC_000019.8:g.41013791T>A | NCBI36 |
| NG_013356.2:g.43239A>T , LRG_693:g.43239A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378910.10:c.3481+4A>T MANE Select | ENSP00000368190.4:n.3481+4A>T | |
| ENST00000353632.6:c.3361+4A>T | ENSP00000343634.5:n.3361+4A>T | |
| ENST00000378910.9:c.3481+4A>T | ENSP00000368190.4:n.3481+4A>T | |
| NM_004646.3:c.3481+4A>T , LRG_693t1:c.3481+4A>T | NP_004637.1:n.3481+4A>T | |
| NM_004646.4:c.3481+4A>T MANE Select | NP_004637.1:n.3481+4A>T |