Linked Data
ClinVar Variation Id:
2831698
ClinVar RCV Id:
RCV003686729
dbSNP Id:
rs1971420324
gnomAD v3:
19-32971825-C-T
gnomAD v4:
19-32971825-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32971825C>T , CM000681.2:g.32971825C>T | GRCh38 |
| NC_000019.9:g.33462731C>T , CM000681.1:g.33462731C>T | GRCh37 |
| NC_000019.8:g.38154571C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305768.10:c.39+11G>A MANE Select | ENSP00000306105.4:n.39+11G>A | |
| ENST00000305768.9:c.39+11G>A | ENSP00000306105.4:n.39+11G>A | |
| ENST00000586984.6:c.39+11G>A | ENSP00000465141.1:n.39+11G>A | |
| ENST00000590597.6:c.39+11G>A | ENSP00000466442.1:n.39+11G>A | |
| ENST00000591205.1:n.140+11G>A | ||
| ENST00000591863.1:c.39+11G>A | ENSP00000481256.1:n.39+11G>A | |
| ENST00000592401.1:n.81+11G>A | ||
| NM_032816.4:c.39+11G>A | NP_116205.3:n.39+11G>A | |
| XM_005259344.2:c.39+11G>A | XP_005259401.1:n.39+11G>A | |
| XM_005259346.2:c.39+11G>A | XP_005259403.1:n.39+11G>A | |
| XR_935866.1:n.189+11G>A | ||
| XM_005259344.3:c.39+11G>A | XP_005259401.1:n.39+11G>A | |
| XM_017027398.1:c.39+11G>A | XP_016882887.1:n.39+11G>A | |
| XM_024451745.1:c.-811+11G>A | XP_024307513.1:n.-811+11G>A | |
| XR_002958372.1:n.189+11G>A | ||
| XR_935866.2:n.189+11G>A | ||
| NM_032816.5:c.39+11G>A MANE Select | NP_116205.3:n.39+11G>A |