Linked Data
ClinVar Variation Id:
340139
dbSNP Id:
rs144590448
ExAC:
21:46306753 G / A
gnomAD v2:
21-46306753-G-A
gnomAD v3:
21-44886838-G-A
gnomAD v4:
21-44886838-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44886838G>A , CM000683.2:g.44886838G>A | GRCh38 |
| NC_000021.8:g.46306753G>A , CM000683.1:g.46306753G>A | GRCh37 |
| NC_000021.7:g.45131181G>A | NCBI36 |
| NG_007270.2:g.47001C>T , LRG_76:g.47001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696946.1:n.1352C>T | ||
| ENST00000302347.10:c.2217C>T | ENSP00000303242.6:p.Ile739= | |
| ENST00000652462.1:c.2145C>T MANE Select | ENSP00000498780.1:p.Ile715= | |
| ENST00000302347.9:c.2145C>T | ENSP00000303242.5:p.Ile715= | |
| ENST00000355153.8:c.2145C>T | ENSP00000347279.4:p.Ile715= | |
| ENST00000397850.6:c.2145C>T | ENSP00000380948.2:p.Ile715= | |
| ENST00000397852.5:c.2145C>T | ENSP00000380950.1:p.Ile715= | |
| ENST00000397854.7:c.1974C>T | ENSP00000380952.3:p.Ile658= | |
| ENST00000397857.5:c.2145C>T | ENSP00000380955.1:p.Ile715= | |
| ENST00000475170.5:n.1545C>T | ||
| ENST00000479202.5:n.504C>T | ||
| ENST00000498666.5:n.4201C>T | ||
| ENST00000523323.5:c.*1972C>T | ENSP00000427732.1:n.*1972C>T | |
| ENST00000610622.4:c.*836C>T | ENSP00000480700.1:n.*836C>T | |
| NM_000211.4:c.2145C>T | NP_000202.3:p.Ile715= | |
| NM_001127491.2:c.2145C>T | NP_001120963.2:p.Ile715= | |
| NM_001303238.1:c.1938C>T | NP_001290167.1:p.Ile646= | |
| XM_006724001.1:c.1938C>T | XP_006724064.1:p.Ile646= | |
| XM_006724001.2:c.1938C>T | XP_006724064.1:p.Ile646= | |
| NM_000211.5:c.2145C>T MANE Select | NP_000202.3:p.Ile715= | |
| NM_001127491.3:c.2145C>T | NP_001120963.2:p.Ile715= | |
| NM_001303238.2:c.1938C>T | NP_001290167.1:p.Ile646= |