Linked Data
ClinVar Variation Id:
344527
ClinVar RCV Id:
RCV000341669
dbSNP Id:
rs766043927
ExAC:
3:197677808 C / T
gnomAD v2:
3-197677808-C-T
gnomAD v3:
3-197950937-C-T
gnomAD v4:
3-197950937-C-T
COSMIC:
COSN24300358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.197950937C>T , CM000665.2:g.197950937C>T | GRCh38 |
| NC_000003.11:g.197677808C>T , CM000665.1:g.197677808C>T | GRCh37 |
| NC_000003.10:g.199162205C>T | NCBI36 |
| NG_011743.1:g.5757C>T | |
| NG_033072.1:g.14079G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265239.11:c.-59-5251G>A (IQCG) MANE Select | ENSP00000265239.6:n.-59-5251G>A | |
| ENST00000448864.6:c.-31C>T (RPL35A) | ENSP00000393393.1:n.-31C>T | |
| ENST00000642387.1:n.202+54C>T (RPL35A) | ||
| ENST00000647248.2:c.-31C>T (RPL35A) MANE Select | ENSP00000495672.1:n.-31C>T | |
| ENST00000265239.10:c.-59-5251G>A (IQCG) | ENSP00000265239.6:n.-59-5251G>A | |
| ENST00000329092.12:n.31C>T (RPL35A) | ||
| ENST00000416896.1:c.-49-6886G>A (IQCG) | ENSP00000406411.1:n.-49-6886G>A | |
| ENST00000429437.5:c.-31C>T (RPL35A) | ENSP00000398058.1:n.-31C>T | |
| ENST00000442341.5:c.-31C>T (RPL35A) | ENSP00000387688.1:n.-31C>T | |
| ENST00000448864.5:c.-31C>T (RPL35A) | ENSP00000393393.1:n.-31C>T | |
| ENST00000464167.5:c.-31C>T (RPL35A) | ENSP00000419117.1:n.-31C>T | |
| ENST00000480302.5:n.313-5251G>A (IQCG) | ||
| ENST00000485439.5:n.34C>T (RPL35A) | ||
| ENST00000496582.5:n.31C>T (RPL35A) | ||
| NM_000996.2:c.-31C>T (RPL35A) | NP_000987.2:n.-31C>T | |
| NM_001316311.1:c.-31C>T (RPL35A) | NP_001303240.1:n.-31C>T | |
| NM_032263.3:c.-59-5251G>A (IQCG) | NP_115639.1:n.-59-5251G>A | |
| XR_924190.1:n.357-5251G>A (IQCG) | ||
| NM_000996.4:c.-31C>T (RPL35A) MANE Select | NP_000987.2:n.-31C>T | |
| NM_001323028.1:c.-49-6886G>A (IQCG) | NP_001309957.1:n.-49-6886G>A | |
| NM_001323029.1:c.-374-5251G>A (IQCG) | NP_001309958.1:n.-374-5251G>A | |
| NM_032263.4:c.-59-5251G>A (IQCG) | NP_115639.1:n.-59-5251G>A | |
| XM_024453790.1:c.-59-5251G>A (IQCG) | XP_024309558.1:n.-59-5251G>A | |
| XR_002959600.1:n.357-5251G>A (IQCG) | ||
| NM_032263.5:c.-59-5251G>A (IQCG) MANE Select | NP_115639.1:n.-59-5251G>A | |
| NM_001316311.2:c.-31C>T (RPL35A) | NP_001303240.1:n.-31C>T | |
| NM_001323028.2:c.-49-6886G>A (IQCG) | NP_001309957.1:n.-49-6886G>A | |
| NM_001323029.2:c.-374-5251G>A (IQCG) | NP_001309958.1:n.-374-5251G>A |