Linked Data
dbSNP Id:
rs981508530
gnomAD v2:
12-52882223-T-C
gnomAD v3:
12-52488439-T-C
gnomAD v4:
12-52488439-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488439T>C , CM000674.2:g.52488439T>C | GRCh38 |
| NC_000012.11:g.52882223T>C , CM000674.1:g.52882223T>C | GRCh37 |
| NC_000012.10:g.51168490T>C | NCBI36 |
| NG_008298.1:g.9959A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1313A>G MANE Select | ENSP00000369317.3:p.Lys438Arg | |
| ENST00000330722.6:c.1313A>G | ENSP00000369317.3:p.Lys438Arg | |
| NM_005554.3:c.1313A>G | NP_005545.1:p.Lys438Arg | |
| NM_005554.4:c.1313A>G MANE Select | NP_005545.1:p.Lys438Arg |