Linked Data
ClinVar Variation Id:
1428207
ClinVar RCV Id:
RCV001936195
dbSNP Id:
rs201829650
ExAC:
5:150639412 G / A
gnomAD v2:
5-150639412-G-A
gnomAD v3:
5-151259851-G-A
gnomAD v4:
5-151259851-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259851G>A , CM000667.2:g.151259851G>A | GRCh38 |
| NC_000005.9:g.150639412G>A , CM000667.1:g.150639412G>A | GRCh37 |
| NC_000005.8:g.150619605G>A | NCBI36 |
| NG_009059.1:g.11800G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.178G>A MANE Select | ENSP00000349687.3:p.Val60Ile | |
| ENST00000357164.3:c.178G>A | ENSP00000349687.3:p.Val60Ile | |
| ENST00000523004.1:c.53G>A | ||
| ENST00000523466.5:c.223G>A | ENSP00000429100.1:p.Val75Ile | |
| NM_000405.4:c.178G>A | NP_000396.2:p.Val60Ile | |
| NM_001167607.1:c.178G>A | NP_001161079.1:p.Val60Ile | |
| NM_000405.5:c.178G>A MANE Select | NP_000396.2:p.Val60Ile | |
| NM_001167607.2:c.178G>A | NP_001161079.1:p.Val60Ile | |
| NM_001167607.3:c.178G>A | NP_001161079.1:p.Val60Ile |