Linked Data
dbSNP Id:
rs760273114
ExAC:
1:17708550 G / A
gnomAD v2:
1-17708550-G-A
gnomAD v4:
1-17382055-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17382055G>A , CM000663.2:g.17382055G>A | GRCh38 |
| NC_000001.10:g.17708550G>A , CM000663.1:g.17708550G>A | GRCh37 |
| NC_000001.9:g.17581137G>A | NCBI36 |
| NG_032943.1:g.14810G>A | |
| NG_032943.2:g.14810G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.642G>A MANE Select | ENSP00000483125.1:p.Lys214= | |
| NM_207421.4:c.642G>A MANE Select | NP_997304.3:p.Lys214= |