Linked Data
ClinVar Variation Id:
1424873
ClinVar RCV Id:
RCV001924100
dbSNP Id:
rs763860990
ExAC:
21:46313320 G / A
gnomAD v2:
21-46313320-G-A
gnomAD v3:
21-44893405-G-A
gnomAD v4:
21-44893405-G-A
COSMIC:
COSM2155053
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44893405G>A , CM000683.2:g.44893405G>A | GRCh38 |
| NC_000021.8:g.46313320G>A , CM000683.1:g.46313320G>A | GRCh37 |
| NC_000021.7:g.45137748G>A | NCBI36 |
| NG_007270.2:g.40434C>T , LRG_76:g.40434C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302347.10:c.1295C>T | ENSP00000303242.6:p.Pro432Leu | |
| ENST00000652462.1:c.1223C>T MANE Select | ENSP00000498780.1:p.Pro408Leu | |
| ENST00000302347.9:c.1223C>T | ENSP00000303242.5:p.Pro408Leu | |
| ENST00000355153.8:c.1223C>T | ENSP00000347279.4:p.Pro408Leu | |
| ENST00000397850.6:c.1223C>T | ENSP00000380948.2:p.Pro408Leu | |
| ENST00000397852.5:c.1223C>T | ENSP00000380950.1:p.Pro408Leu | |
| ENST00000397854.7:c.1052C>T | ENSP00000380952.3:p.Pro351Leu | |
| ENST00000397857.5:c.1223C>T | ENSP00000380955.1:p.Pro408Leu | |
| ENST00000475170.5:n.623C>T | ||
| ENST00000498666.5:n.2792C>T | ||
| ENST00000523323.5:c.*1050C>T | ENSP00000427732.1:n.*1050C>T | |
| ENST00000610622.4:c.1052C>T | ENSP00000480700.1:p.Pro351Leu | |
| NM_000211.4:c.1223C>T | NP_000202.3:p.Pro408Leu | |
| NM_001127491.2:c.1223C>T | NP_001120963.2:p.Pro408Leu | |
| NM_001303238.1:c.1016C>T | NP_001290167.1:p.Pro339Leu | |
| XM_006724001.1:c.1016C>T | XP_006724064.1:p.Pro339Leu | |
| XM_006724001.2:c.1016C>T | XP_006724064.1:p.Pro339Leu | |
| NM_000211.5:c.1223C>T MANE Select | NP_000202.3:p.Pro408Leu | |
| NM_001127491.3:c.1223C>T | NP_001120963.2:p.Pro408Leu | |
| NM_001303238.2:c.1016C>T | NP_001290167.1:p.Pro339Leu |