Linked Data
dbSNP Id:
rs201058463
ExAC:
1:17727811 G / C
gnomAD v2:
1-17727811-G-C
gnomAD v3:
1-17401315-G-C
gnomAD v4:
1-17401315-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401315G>C , CM000663.2:g.17401315G>C | GRCh38 |
| NC_000001.10:g.17727811G>C , CM000663.1:g.17727811G>C | GRCh37 |
| NC_000001.9:g.17600398G>C | NCBI36 |
| NG_032943.1:g.34070G>C | |
| NG_032943.2:g.34070G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1962G>C MANE Select | ENSP00000483125.1:p.Leu654= | |
| NM_207421.4:c.1962G>C MANE Select | NP_997304.3:p.Leu654= |