Linked Data
ClinVar Variation Id:
372670
ClinVar RCV Id:
RCV000412826
dbSNP Id:
rs1057517914
gnomAD v4:
19-5896452-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5896452C>T , CM000681.2:g.5896452C>T | GRCh38 |
| NC_000019.9:g.5896463C>T , CM000681.1:g.5896463C>T | GRCh37 |
| NC_000019.8:g.5847463C>T | NCBI36 |
| NG_027808.1:g.12562G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308961.5:c.313+1G>A MANE Select | ENSP00000311740.4:n.313+1G>A | |
| ENST00000650663.1:n.508+1G>A | ||
| ENST00000308961.4:c.313+1G>A | ENSP00000311740.3:n.313+1G>A | |
| ENST00000418389.6:c.313+1G>A | ENSP00000389160.1:n.313+1G>A | |
| ENST00000585661.1:c.308+1G>A | ||
| ENST00000586349.5:c.383+1G>A | ||
| ENST00000591341.1:n.229+1G>A | ||
| ENST00000592091.5:c.313+1G>A | ENSP00000465499.1:n.313+1G>A | |
| ENST00000592634.5:c.314G>A | ENSP00000467706.1:p.Ser105Asn | |
| ENST00000593233.1:c.*325+1G>A | ENSP00000466103.1:n.*325+1G>A | |
| NM_001193375.1:c.313+1G>A | NP_001180304.1:n.313+1G>A | |
| NM_175614.4:c.313+1G>A | NP_783313.1:n.313+1G>A | |
| NR_034166.2:n.738+1G>A | ||
| NM_001193375.2:c.313+1G>A | NP_001180304.1:n.313+1G>A | |
| NM_175614.5:c.313+1G>A MANE Select | NP_783313.1:n.313+1G>A | |
| NR_034166.3:n.515+1G>A | ||
| NM_001193375.3:c.313+1G>A | NP_001180304.1:n.313+1G>A |