Linked Data
ClinVar Variation Id:
329974
dbSNP Id:
rs8111243
ExAC:
19:51885766 G / A
gnomAD v2:
19-51885766-G-A
gnomAD v3:
19-51382512-G-A
gnomAD v4:
19-51382512-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51382512G>A , CM000681.2:g.51382512G>A | GRCh38 |
| NC_000019.9:g.51885766G>A , CM000681.1:g.51885766G>A | GRCh37 |
| NC_000019.8:g.56577578G>A | NCBI36 |
| NG_012924.1:g.10445C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000596399.2:c.231C>T MANE Select | ENSP00000472090.2:p.Ser77= | |
| ENST00000221973.7:c.357C>T | ENSP00000221973.2:p.Ser119= | |
| ENST00000596399.1:c.231C>T | ENSP00000472090.1:p.Ser77= | |
| NM_001161748.1:c.231C>T | NP_001155220.1:p.Ser77= | |
| NM_030657.3:c.357C>T | NP_085915.2:p.Ser119= | |
| NM_001161748.2:c.231C>T MANE Select | NP_001155220.1:p.Ser77= | |
| NM_030657.4:c.357C>T | NP_085915.2:p.Ser119= |