Linked Data
ClinVar Variation Id:
1170802
ClinVar RCV Id:
RCV001523496
dbSNP Id:
rs2257167
ExAC:
21:34715699 G / C
gnomAD v2:
21-34715699-G-C
gnomAD v3:
21-33343393-G-C
gnomAD v4:
21-33343393-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33343393G>C , CM000683.2:g.33343393G>C | GRCh38 |
| NC_000021.8:g.34715699G>C , CM000683.1:g.34715699G>C | GRCh37 |
| NC_000021.7:g.33637569G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000442071.3:c.377-1853G>C | ENSP00000400161.3:n.377-1853G>C | |
| ENST00000651609.2:c.*219G>C | ENSP00000498594.1:n.*219G>C | |
| ENST00000652450.2:c.295G>C | ENSP00000498654.1:p.Val99Leu | |
| ENST00000652513.2:c.502G>C | ENSP00000498491.1:p.Val168Leu | |
| ENST00000652654.3:c.377-142G>C | ENSP00000498666.1:n.377-142G>C | |
| ENST00000700045.1:n.629G>C | ||
| ENST00000700046.1:c.*89G>C | ENSP00000514762.1:n.*89G>C | |
| ENST00000700080.1:c.295G>C | ENSP00000514785.1:p.Val99Leu | |
| ENST00000700084.1:c.-89-1853G>C | ENSP00000514786.1:n.-89-1853G>C | |
| ENST00000700086.1:n.391G>C | ||
| ENST00000700087.1:n.623G>C | ||
| ENST00000700301.1:n.623G>C | ||
| ENST00000703514.1:c.502G>C | ENSP00000515347.1:p.Val168Leu | |
| ENST00000703515.1:c.502G>C | ENSP00000515348.1:p.Val168Leu | |
| ENST00000703516.1:c.201-1853G>C | ENSP00000515349.1:n.201-1853G>C | |
| ENST00000703556.1:c.502G>C | ENSP00000515372.1:p.Val168Leu | |
| ENST00000703557.1:c.502G>C | ENSP00000515373.1:p.Val168Leu | |
| ENST00000703561.1:c.502G>C | ENSP00000515377.1:p.Val168Leu | |
| ENST00000703562.1:c.502G>C | ENSP00000515378.1:p.Val168Leu | |
| ENST00000703563.1:c.*89G>C | ENSP00000515379.1:n.*89G>C | |
| ENST00000703564.1:c.*219G>C | ENSP00000515380.1:n.*219G>C | |
| ENST00000703565.1:c.502G>C | ENSP00000515381.1:p.Val168Leu | |
| ENST00000703778.1:n.423-142G>C | ||
| ENST00000703779.1:c.*89G>C | ENSP00000515477.1:n.*89G>C | |
| ENST00000270139.8:c.502G>C MANE Select | ENSP00000270139.3:p.Val168Leu | |
| ENST00000442071.2:c.377-1853G>C | ENSP00000400161.2:n.377-1853G>C | |
| ENST00000651609.1:c.*219G>C | ENSP00000498594.1:n.*219G>C | |
| ENST00000652450.1:c.295G>C | ENSP00000498654.1:p.Val99Leu | |
| ENST00000652513.1:c.502G>C | ENSP00000498491.1:p.Val168Leu | |
| ENST00000652601.1:c.502G>C | ENSP00000498231.1:p.Val168Leu | |
| ENST00000652654.1:c.377-142G>C | ENSP00000498666.1:n.377-142G>C | |
| ENST00000270139.7:c.502G>C | ENSP00000270139.3:p.Val168Leu | |
| ENST00000442071.1:c.377-1853G>C | ENSP00000400161.1:n.377-1853G>C | |
| NM_000629.2:c.502G>C | NP_000620.2:p.Val168Leu | |
| XM_005260964.1:c.295G>C | XP_005261021.1:p.Val99Leu | |
| XM_011529552.1:c.502G>C | XP_011527854.1:p.Val168Leu | |
| XM_005260964.2:c.295G>C | XP_005261021.1:p.Val99Leu | |
| XM_011529552.2:c.502G>C | XP_011527854.1:p.Val168Leu | |
| NM_000629.3:c.502G>C MANE Select | NP_000620.2:p.Val168Leu | |
| NM_001384498.1:c.502G>C | NP_001371427.1:p.Val168Leu | |
| NM_001384499.1:c.502G>C | NP_001371428.1:p.Val168Leu | |
| NM_001384500.1:c.-285G>C | NP_001371429.1:n.-285G>C | |
| NM_001384501.1:c.502G>C | NP_001371430.1:p.Val168Leu | |
| NM_001384502.1:c.40G>C | NP_001371431.1:p.Val14Leu | |
| NM_001384503.1:c.502G>C | NP_001371432.1:p.Val168Leu | |
| NM_001384504.1:c.295G>C | NP_001371433.1:p.Val99Leu |