Linked Data
ClinVar Variation Id:
1158525
ClinVar RCV Id:
RCV001501981
dbSNP Id:
rs1461479062
MyVariant Identifiers:
chr3:g.10191508G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149824G>C , CM000665.2:g.10149824G>C | GRCh38 |
| NC_000003.11:g.10191508G>C , CM000665.1:g.10191508G>C | GRCh37 |
| NC_000003.10:g.10166508G>C | NCBI36 |
| NG_008212.3:g.13190G>C , LRG_322:g.13190G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*178G>C | ENSP00000512434.1:n.*178G>C | |
| ENST00000696143.1:c.637G>C | ENSP00000512435.1:n.637G>C | |
| ENST00000696153.1:c.612G>C | ENSP00000512444.1:p.Arg204= | |
| ENST00000256474.3:c.501G>C MANE Select | ENSP00000256474.3:p.Arg167= | |
| ENST00000256474.2:c.501G>C | ENSP00000256474.2:p.Arg167= | |
| ENST00000345392.2:c.378G>C | ENSP00000344757.2:p.Arg126= | |
| ENST00000477538.1:n.637G>C | ||
| NM_000551.3:c.501G>C , LRG_322t1:c.501G>C | NP_000542.1:p.Arg167= | |
| NM_198156.2:c.378G>C | NP_937799.1:p.Arg126= | |
| NM_001354723.1:c.*55G>C | NP_001341652.1:n.*55G>C | |
| NM_000551.4:c.501G>C MANE Select | NP_000542.1:p.Arg167= | |
| NM_001354723.2:c.*55G>C | NP_001341652.1:n.*55G>C | |
| NM_198156.3:c.378G>C | NP_937799.1:p.Arg126= |