Linked Data
ClinVar Variation Id:
342414
ClinVar RCV Id:
RCV000260349
dbSNP Id:
rs143062510
gnomAD v2:
3-10192223-T-C
gnomAD v3:
3-10150539-T-C
gnomAD v4:
3-10150539-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10150539T>C , CM000665.2:g.10150539T>C | GRCh38 |
| NC_000003.11:g.10192223T>C , CM000665.1:g.10192223T>C | GRCh37 |
| NC_000003.10:g.10167223T>C | NCBI36 |
| NG_008212.3:g.13905T>C , LRG_322:g.13905T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*893T>C | ENSP00000512434.1:n.*893T>C | |
| ENST00000696143.1:c.1352T>C | ENSP00000512435.1:n.1352T>C | |
| ENST00000696153.1:c.*574T>C | ENSP00000512444.1:n.*574T>C | |
| ENST00000256474.3:c.*574T>C MANE Select | ENSP00000256474.3:n.*574T>C | |
| ENST00000256474.2:c.*574T>C | ENSP00000256474.2:n.*574T>C | |
| ENST00000345392.2:c.*574T>C | ENSP00000344757.2:n.*574T>C | |
| NM_000551.3:c.*574T>C , LRG_322t1:c.*574T>C | NP_000542.1:n.*574T>C | |
| NM_198156.2:c.*574T>C | NP_937799.1:n.*574T>C | |
| NM_001354723.1:c.*770T>C | NP_001341652.1:n.*770T>C | |
| NM_000551.4:c.*574T>C MANE Select | NP_000542.1:n.*574T>C | |
| NM_001354723.2:c.*770T>C | NP_001341652.1:n.*770T>C | |
| NM_198156.3:c.*574T>C | NP_937799.1:n.*574T>C |