Linked Data
ClinVar Variation Id:
329972
ClinVar RCV Id:
RCV000359963
dbSNP Id:
rs142030761
ExAC:
19:51883885 C / T
gnomAD v2:
19-51883885-C-T
gnomAD v3:
19-51380631-C-T
gnomAD v4:
19-51380631-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51380631C>T , CM000681.2:g.51380631C>T | GRCh38 |
| NC_000019.9:g.51883885C>T , CM000681.1:g.51883885C>T | GRCh37 |
| NC_000019.8:g.56575697C>T | NCBI36 |
| NG_012924.1:g.12326G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000596399.2:c.334G>A MANE Select | ENSP00000472090.2:p.Val112Ile | |
| ENST00000221973.7:c.460G>A | ENSP00000221973.2:p.Val154Ile | |
| ENST00000596399.1:c.334G>A | ENSP00000472090.1:p.Val112Ile | |
| NM_001161748.1:c.334G>A | NP_001155220.1:p.Val112Ile | |
| NM_030657.3:c.460G>A | NP_085915.2:p.Val154Ile | |
| NM_001161748.2:c.334G>A MANE Select | NP_001155220.1:p.Val112Ile | |
| NM_030657.4:c.460G>A | NP_085915.2:p.Val154Ile |