Linked Data
ClinVar Variation Id:
347911
ClinVar RCV Id:
RCV000400947
dbSNP Id:
rs3822160
gnomAD v2:
4-157997377-T-C
gnomAD v3:
4-157076225-T-C
gnomAD v4:
4-157076225-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.157076225T>C , CM000666.2:g.157076225T>C | GRCh38 |
| NC_000004.11:g.157997377T>C , CM000666.1:g.157997377T>C | GRCh37 |
| NC_000004.10:g.158216827T>C | NCBI36 |
| NG_015823.1:g.5101T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264428.9:c.-102T>C MANE Select | ENSP00000264428.4:n.-102T>C | |
| ENST00000264428.8:c.-102T>C | ENSP00000264428.4:n.-102T>C | |
| ENST00000506411.5:c.-102T>C | ENSP00000422039.1:n.-102T>C | |
| ENST00000512619.5:c.-102T>C | ENSP00000425433.1:n.-102T>C | |
| ENST00000515642.5:c.-102T>C | ENSP00000421044.1:n.-102T>C | |
| ENST00000541722.5:c.-102T>C | ENSP00000441873.1:n.-102T>C | |
| NM_000824.4:c.-102T>C | NP_000815.1:n.-102T>C | |
| NM_001166061.1:c.-102T>C | NP_001159533.1:n.-102T>C | |
| XM_011531876.1:c.-457T>C | XP_011530178.1:n.-457T>C | |
| XR_001741207.2:n.80T>C | ||
| XR_002959723.1:n.80T>C | ||
| NM_000824.5:c.-102T>C MANE Select | NP_000815.1:n.-102T>C | |
| NM_001166061.2:c.-102T>C | NP_001159533.1:n.-102T>C |