Linked Data
dbSNP Id:
rs753452987
ExAC:
21:46306749 T / A
gnomAD v2:
21-46306749-T-A
gnomAD v4:
21-44886834-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44886834T>A , CM000683.2:g.44886834T>A | GRCh38 |
| NC_000021.8:g.46306749T>A , CM000683.1:g.46306749T>A | GRCh37 |
| NC_000021.7:g.45131177T>A | NCBI36 |
| NG_007270.2:g.47005A>T , LRG_76:g.47005A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696946.1:n.1356A>T | ||
| ENST00000302347.10:c.2221A>T | ENSP00000303242.6:p.Ile741Phe | |
| ENST00000652462.1:c.2149A>T MANE Select | ENSP00000498780.1:p.Ile717Phe | |
| ENST00000302347.9:c.2149A>T | ENSP00000303242.5:p.Ile717Phe | |
| ENST00000355153.8:c.2149A>T | ENSP00000347279.4:p.Ile717Phe | |
| ENST00000397850.6:c.2149A>T | ENSP00000380948.2:p.Ile717Phe | |
| ENST00000397852.5:c.2149A>T | ENSP00000380950.1:p.Ile717Phe | |
| ENST00000397854.7:c.1978A>T | ENSP00000380952.3:p.Ile660Phe | |
| ENST00000397857.5:c.2149A>T | ENSP00000380955.1:p.Ile717Phe | |
| ENST00000475170.5:n.1549A>T | ||
| ENST00000479202.5:n.508A>T | ||
| ENST00000498666.5:n.4205A>T | ||
| ENST00000523323.5:c.*1976A>T | ENSP00000427732.1:n.*1976A>T | |
| ENST00000610622.4:c.*840A>T | ENSP00000480700.1:n.*840A>T | |
| NM_000211.4:c.2149A>T | NP_000202.3:p.Ile717Phe | |
| NM_001127491.2:c.2149A>T | NP_001120963.2:p.Ile717Phe | |
| NM_001303238.1:c.1942A>T | NP_001290167.1:p.Ile648Phe | |
| XM_006724001.1:c.1942A>T | XP_006724064.1:p.Ile648Phe | |
| XM_006724001.2:c.1942A>T | XP_006724064.1:p.Ile648Phe | |
| NM_000211.5:c.2149A>T MANE Select | NP_000202.3:p.Ile717Phe | |
| NM_001127491.3:c.2149A>T | NP_001120963.2:p.Ile717Phe | |
| NM_001303238.2:c.1942A>T | NP_001290167.1:p.Ile648Phe |