Linked Data
ClinVar Variation Id:
301483
ClinVar RCV Id:
RCV000314944
dbSNP Id:
rs11202607
gnomAD v2:
10-89727414-C-T
gnomAD v3:
10-87967657-C-T
gnomAD v4:
10-87967657-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87967657C>T , CM000672.2:g.87967657C>T | GRCh38 |
| NC_000010.10:g.89727414C>T , CM000672.1:g.89727414C>T | GRCh37 |
| NC_000010.9:g.89717394C>T | NCBI36 |
| NG_007466.2:g.109219C>T , LRG_311:g.109219C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710265.1:c.*2426C>T | ENSP00000518161.1:n.*2426C>T | |
| ENST00000688158.2:n.4132C>T | ||
| ENST00000706954.1:c.*2185C>T | ENSP00000516674.1:n.*2185C>T | |
| ENST00000706955.1:c.*3432C>T | ENSP00000516675.1:n.*3432C>T | |
| ENST00000688158.1:c.*3508C>T | ENSP00000509254.1:n.*3508C>T | |
| ENST00000693560.1:c.*2185C>T | ENSP00000509861.1:n.*2185C>T | |
| ENST00000371953.8:c.*2185C>T MANE Select | ENSP00000361021.3:n.*2185C>T | |
| ENST00000371953.7:c.*2185C>T | ENSP00000361021.3:n.*2185C>T | |
| NM_000314.5:c.*2185C>T | NP_000305.3:n.*2185C>T | |
| NM_000314.6:c.*2185C>T | NP_000305.3:n.*2185C>T | |
| NM_001304717.2:c.*2185C>T | NP_001291646.2:n.*2185C>T | |
| NM_001304718.1:c.*2185C>T | NP_001291647.1:n.*2185C>T | |
| XM_006717926.2:c.*2185C>T | XP_006717989.1:n.*2185C>T | |
| XM_011539982.1:c.*2185C>T | XP_011538284.1:n.*2185C>T | |
| XR_945791.1:n.3967C>T | ||
| NM_000314.7:c.*2185C>T | NP_000305.3:n.*2185C>T | |
| NM_001304717.5:c.*2185C>T | NP_001291646.4:n.*2185C>T | |
| NM_001304718.2:c.*2185C>T | NP_001291647.1:n.*2185C>T | |
| NM_000314.8:c.*2185C>T MANE Select | NP_000305.3:n.*2185C>T |