Linked Data
dbSNP Id:
rs201243948
ExAC:
16:57017266 G / A
gnomAD v2:
16-57017266-G-A
gnomAD v3:
16-56983354-G-A
gnomAD v4:
16-56983354-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56983354G>A , CM000678.2:g.56983354G>A | GRCh38 |
| NC_000016.9:g.57017266G>A , CM000678.1:g.57017266G>A | GRCh37 |
| NC_000016.8:g.55574767G>A | NCBI36 |
| NG_008952.1:g.26432G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200676.8:c.1350G>A MANE Select | ENSP00000200676.3:p.Met450Ile | |
| ENST00000650358.1:n.1748G>A | ||
| ENST00000200676.7:c.1350G>A | ENSP00000200676.3:p.Met450Ile | |
| ENST00000379780.6:c.1170G>A | ENSP00000369106.2:p.Met390Ile | |
| ENST00000566128.1:c.1155G>A | ENSP00000456276.1:p.Met385Ile | |
| NM_000078.2:c.1350G>A | NP_000069.2:p.Met450Ile | |
| NM_001286085.1:c.1170G>A | NP_001273014.1:p.Met390Ile | |
| NM_000078.3:c.1350G>A MANE Select | NP_000069.2:p.Met450Ile | |
| NM_001286085.2:c.1170G>A | NP_001273014.1:p.Met390Ile |