Linked Data
ClinVar Variation Id:
344528
dbSNP Id:
rs145660527
ExAC:
3:197678039 C / T
gnomAD v2:
3-197678039-C-T
gnomAD v3:
3-197951168-C-T
gnomAD v4:
3-197951168-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.197951168C>T , CM000665.2:g.197951168C>T | GRCh38 |
| NC_000003.11:g.197678039C>T , CM000665.1:g.197678039C>T | GRCh37 |
| NC_000003.10:g.199162436C>T | NCBI36 |
| NG_011743.1:g.5988C>T | |
| NG_033072.1:g.13848G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265239.11:c.-59-5482G>A (IQCG) MANE Select | ENSP00000265239.6:n.-59-5482G>A | |
| ENST00000448864.6:c.21C>T (RPL35A) | ENSP00000393393.1:p.Ser7= | |
| ENST00000642387.1:n.212C>T (RPL35A) | ||
| ENST00000647248.2:c.21C>T (RPL35A) MANE Select | ENSP00000495672.1:p.Ser7= | |
| ENST00000265239.10:c.-59-5482G>A (IQCG) | ENSP00000265239.6:n.-59-5482G>A | |
| ENST00000329092.12:n.82C>T (RPL35A) | ||
| ENST00000416896.1:c.-49-7117G>A (IQCG) | ENSP00000406411.1:n.-49-7117G>A | |
| ENST00000429437.5:c.21C>T (RPL35A) | ENSP00000398058.1:p.Ser7= | |
| ENST00000439255.1:c.21C>T (RPL35A) | ENSP00000410683.1:p.Ser7= | |
| ENST00000442341.5:c.21C>T (RPL35A) | ENSP00000387688.1:p.Ser7= | |
| ENST00000448864.5:c.21C>T (RPL35A) | ENSP00000393393.1:p.Ser7= | |
| ENST00000464167.5:c.21C>T (RPL35A) | ENSP00000419117.1:p.Ser7= | |
| ENST00000480302.5:n.313-5482G>A (IQCG) | ||
| ENST00000485439.5:n.85C>T (RPL35A) | ||
| ENST00000496582.5:n.82C>T (RPL35A) | ||
| NM_000996.2:c.21C>T (RPL35A) | NP_000987.2:p.Ser7= | |
| NM_001316311.1:c.21C>T (RPL35A) | NP_001303240.1:p.Ser7= | |
| NM_032263.3:c.-59-5482G>A (IQCG) | NP_115639.1:n.-59-5482G>A | |
| XR_924190.1:n.357-5482G>A (IQCG) | ||
| NM_000996.4:c.21C>T (RPL35A) MANE Select | NP_000987.2:p.Ser7= | |
| NM_001323028.1:c.-49-7117G>A (IQCG) | NP_001309957.1:n.-49-7117G>A | |
| NM_001323029.1:c.-374-5482G>A (IQCG) | NP_001309958.1:n.-374-5482G>A | |
| NM_032263.4:c.-59-5482G>A (IQCG) | NP_115639.1:n.-59-5482G>A | |
| XM_024453790.1:c.-59-5482G>A (IQCG) | XP_024309558.1:n.-59-5482G>A | |
| XR_002959600.1:n.357-5482G>A (IQCG) | ||
| NM_032263.5:c.-59-5482G>A (IQCG) MANE Select | NP_115639.1:n.-59-5482G>A | |
| NM_001316311.2:c.21C>T (RPL35A) | NP_001303240.1:p.Ser7= | |
| NM_001323028.2:c.-49-7117G>A (IQCG) | NP_001309957.1:n.-49-7117G>A | |
| NM_001323029.2:c.-374-5482G>A (IQCG) | NP_001309958.1:n.-374-5482G>A |