Linked Data
ClinVar Variation Id:
2080752
ClinVar RCV Id:
RCV003002167
dbSNP Id:
rs746613798
ExAC:
4:123536899 T / C
gnomAD v2:
4-123536899-T-C
gnomAD v3:
4-122615744-T-C
gnomAD v4:
4-122615744-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122615744T>C , CM000666.2:g.122615744T>C | GRCh38 |
| NC_000004.11:g.123536899T>C , CM000666.1:g.123536899T>C | GRCh37 |
| NC_000004.10:g.123756349T>C | NCBI36 |
| NG_031966.1:g.10314A>G | |
| NG_031966.2:g.10323A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611104.2:c.298A>G | ENSP00000477555.1:p.Ile100Val | |
| ENST00000647784.1:n.150A>G | ||
| ENST00000648588.1:c.298A>G MANE Select | ENSP00000497915.1:p.Ile100Val | |
| ENST00000264497.7:c.298A>G | ENSP00000264497.3:p.Ile100Val | |
| ENST00000611104.1:c.298A>G | ENSP00000477555.1:p.Ile100Val | |
| NM_001207006.2:c.298A>G | NP_001193935.1:p.Ile100Val | |
| NM_021803.3:c.298A>G | NP_068575.1:p.Ile100Val | |
| NM_021803.4:c.298A>G MANE Select | NP_068575.1:p.Ile100Val | |
| NM_001207006.3:c.298A>G | NP_001193935.1:p.Ile100Val |