Linked Data
ClinVar Variation Id:
1098555
ClinVar RCV Id:
RCV001420489
dbSNP Id:
rs1242618824
gnomAD v2:
12-6127555-T-C
gnomAD v4:
12-6018389-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6018389T>C , CM000674.2:g.6018389T>C | GRCh38 |
| NC_000012.11:g.6127555T>C , CM000674.1:g.6127555T>C | GRCh37 |
| NC_000012.10:g.5997816T>C | NCBI36 |
| NG_009072.1:g.111282A>G | |
| NG_009072.2:g.111282A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.5029A>G MANE Select | ENSP00000261405.5:p.Ile1677Val | |
| ENST00000261405.9:c.5029A>G | ENSP00000261405.5:p.Ile1677Val | |
| ENST00000538635.5:n.421-24455A>G | ||
| NM_000552.3:c.5029A>G | NP_000543.2:p.Ile1677Val | |
| NM_000552.4:c.5029A>G | NP_000543.2:p.Ile1677Val | |
| NM_000552.5:c.5029A>G MANE Select | NP_000543.3:p.Ile1677Val |