Linked Data
ClinVar Variation Id:
1988298
ClinVar RCV Id:
RCV002781233
dbSNP Id:
rs769950442
ExAC:
19:1399030 G / A
gnomAD v2:
19-1399030-G-A
gnomAD v3:
19-1399031-G-A
gnomAD v4:
19-1399031-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399031G>A , CM000681.2:g.1399031G>A | GRCh38 |
| NC_000019.9:g.1399030G>A , CM000681.1:g.1399030G>A | GRCh37 |
| NC_000019.8:g.1350030G>A | NCBI36 |
| NG_009785.1:g.7523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.460-5C>T MANE Select | ENSP00000252288.1:n.460-5C>T | |
| ENST00000447102.8:c.460-5C>T | ENSP00000403536.2:n.460-5C>T | |
| ENST00000591788.3:c.143-5C>T | ||
| ENST00000640164.1:n.293-5C>T | ||
| ENST00000640762.1:c.391-5C>T | ENSP00000492031.1:n.391-5C>T | |
| ENST00000252288.6:c.460-5C>T | ENSP00000252288.1:n.460-5C>T | |
| ENST00000447102.7:c.460-5C>T | ENSP00000403536.2:n.460-5C>T | |
| ENST00000591788.2:c.145-5C>T | ENSP00000466341.2:n.145-5C>T | |
| NM_000156.5:c.460-5C>T | NP_000147.1:n.460-5C>T | |
| NM_138924.2:c.460-5C>T | NP_620279.1:n.460-5C>T | |
| NM_000156.6:c.460-5C>T MANE Select | NP_000147.1:n.460-5C>T | |
| NM_138924.3:c.460-5C>T | NP_620279.1:n.460-5C>T |