Linked Data
dbSNP Id:
rs150913083
ExAC:
12:52881856 T / G
gnomAD v2:
12-52881856-T-G
gnomAD v4:
12-52488072-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488072T>G , CM000674.2:g.52488072T>G | GRCh38 |
| NC_000012.11:g.52881856T>G , CM000674.1:g.52881856T>G | GRCh37 |
| NC_000012.10:g.51168123T>G | NCBI36 |
| NG_008298.1:g.10326A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1456A>C MANE Select | ENSP00000369317.3:p.Ile486Leu | |
| ENST00000330722.6:c.1456A>C | ENSP00000369317.3:p.Ile486Leu | |
| NM_005554.3:c.1456A>C | NP_005545.1:p.Ile486Leu | |
| NM_005554.4:c.1456A>C MANE Select | NP_005545.1:p.Ile486Leu |