Linked Data
ClinVar Variation Id:
1594561
ClinVar RCV Id:
RCV002107911
dbSNP Id:
rs530430495
ExAC:
19:10426509 C / T
gnomAD v2:
19-10426509-C-T
gnomAD v3:
19-10315833-C-T
gnomAD v4:
19-10315833-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10315833C>T , CM000681.2:g.10315833C>T | GRCh38 |
| NC_000019.9:g.10426509C>T , CM000681.1:g.10426509C>T | GRCh37 |
| NC_000019.8:g.10287509C>T | NCBI36 |
| NG_034259.1:g.5183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706663.1:c.51+113G>A | ENSP00000516489.1:n.51+113G>A | |
| ENST00000343376.8:n.181G>A | ||
| ENST00000393708.3:c.154+19G>A MANE Select | ENSP00000377311.4:n.154+19G>A | |
| ENST00000452032.6:c.154+19G>A | ENSP00000408510.2:n.154+19G>A | |
| ENST00000453681.1:n.178G>A | ||
| ENST00000460631.5:n.145+19G>A | ||
| ENST00000486454.1:n.155+19G>A | ||
| ENST00000494368.5:c.-260-74G>A | ENSP00000467188.1:n.-260-74G>A | |
| ENST00000586529.1:c.1774-74G>A | ENSP00000467814.1:n.1774-74G>A | |
| NM_001031734.3:c.154+19G>A | NP_001026904.2:n.154+19G>A | |
| NM_001031734.4:c.154+19G>A | NP_001026904.2:n.154+19G>A | |
| NM_001397406.1:c.145+19G>A MANE Select | NP_001384335.1:n.145+19G>A |