Linked Data
ClinVar Variation Id:
297342
ClinVar RCV Id:
RCV000401032
dbSNP Id:
rs755364712
ExAC:
1:43204143 T / C
gnomAD v2:
1-43204143-T-C
gnomAD v3:
1-42738472-T-C
gnomAD v4:
1-42738472-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42738472T>C , CM000663.2:g.42738472T>C | GRCh38 |
| NC_000001.10:g.43204143T>C , CM000663.1:g.43204143T>C | GRCh37 |
| NC_000001.9:g.42976730T>C | NCBI36 |
| NG_008993.1:g.6783A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296387.6:c.337A>G MANE Select | ENSP00000296387.1:p.Ile113Val | |
| ENST00000296387.5:c.337A>G | ENSP00000296387.1:p.Ile113Val | |
| ENST00000372539.3:c.337A>G | ENSP00000361617.3:p.Ile113Val | |
| ENST00000539749.5:c.337A>G | ENSP00000443229.1:p.Ile113Val | |
| NM_001123395.1:c.337A>G | NP_001116867.1:p.Ile113Val | |
| NM_001185117.1:c.337A>G | NP_001172046.1:p.Ile113Val | |
| NM_148960.2:c.337A>G | NP_683763.2:p.Ile113Val | |
| NM_001123395.2:c.337A>G | NP_001116867.1:p.Ile113Val | |
| NM_148960.3:c.337A>G MANE Select | NP_683763.2:p.Ile113Val | |
| NM_001185117.2:c.337A>G | NP_001172046.1:p.Ile113Val |