Linked Data
ClinVar Variation Id:
21067
dbSNP Id:
rs55776826
ExAC:
19:1399056 C / T
gnomAD v2:
19-1399056-C-T
gnomAD v3:
19-1399057-C-T
gnomAD v4:
19-1399057-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399057C>T , CM000681.2:g.1399057C>T | GRCh38 |
| NC_000019.9:g.1399056C>T , CM000681.1:g.1399056C>T | GRCh37 |
| NC_000019.8:g.1350056C>T | NCBI36 |
| NG_009785.1:g.7497G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252288.8:c.460-31G>A MANE Select | ENSP00000252288.1:n.460-31G>A | |
| ENST00000447102.8:c.460-31G>A | ENSP00000403536.2:n.460-31G>A | |
| ENST00000591788.3:c.143-31G>A | ||
| ENST00000640164.1:n.293-31G>A | ||
| ENST00000640762.1:c.391-31G>A | ENSP00000492031.1:n.391-31G>A | |
| ENST00000252288.6:c.460-31G>A | ENSP00000252288.1:n.460-31G>A | |
| ENST00000447102.7:c.460-31G>A | ENSP00000403536.2:n.460-31G>A | |
| ENST00000591788.2:c.145-31G>A | ENSP00000466341.2:n.145-31G>A | |
| NM_000156.5:c.460-31G>A | NP_000147.1:n.460-31G>A | |
| NM_138924.2:c.460-31G>A | NP_620279.1:n.460-31G>A | |
| NM_000156.6:c.460-31G>A MANE Select | NP_000147.1:n.460-31G>A | |
| NM_138924.3:c.460-31G>A | NP_620279.1:n.460-31G>A |