Linked Data
dbSNP Id:
rs1039241524
gnomAD v2:
16-57017254-T-C
gnomAD v3:
16-56983342-T-C
gnomAD v4:
16-56983342-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56983342T>C , CM000678.2:g.56983342T>C | GRCh38 |
| NC_000016.9:g.57017254T>C , CM000678.1:g.57017254T>C | GRCh37 |
| NC_000016.8:g.55574755T>C | NCBI36 |
| NG_008952.1:g.26420T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200676.8:c.1338T>C MANE Select | ENSP00000200676.3:p.Phe446= | |
| ENST00000650358.1:n.1736T>C | ||
| ENST00000200676.7:c.1338T>C | ENSP00000200676.3:p.Phe446= | |
| ENST00000379780.6:c.1158T>C | ENSP00000369106.2:p.Phe386= | |
| ENST00000566128.1:c.1143T>C | ENSP00000456276.1:p.Phe381= | |
| NM_000078.2:c.1338T>C | NP_000069.2:p.Phe446= | |
| NM_001286085.1:c.1158T>C | NP_001273014.1:p.Phe386= | |
| NM_000078.3:c.1338T>C MANE Select | NP_000069.2:p.Phe446= | |
| NM_001286085.2:c.1158T>C | NP_001273014.1:p.Phe386= |