Linked Data
ClinVar Variation Id:
651435
ClinVar RCV Id:
RCV000806798
dbSNP Id:
rs752940316
ExAC:
3:10191597 A / C
gnomAD v2:
3-10191597-A-C
gnomAD v4:
3-10149913-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149913A>C , CM000665.2:g.10149913A>C | GRCh38 |
| NC_000003.11:g.10191597A>C , CM000665.1:g.10191597A>C | GRCh37 |
| NC_000003.10:g.10166597A>C | NCBI36 |
| NG_008212.3:g.13279A>C , LRG_322:g.13279A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*267A>C | ENSP00000512434.1:n.*267A>C | |
| ENST00000696143.1:c.726A>C | ENSP00000512435.1:n.726A>C | |
| ENST00000696153.1:c.701A>C | ENSP00000512444.1:p.Asp234Ala | |
| ENST00000256474.3:c.590A>C MANE Select | ENSP00000256474.3:p.Asp197Ala | |
| ENST00000256474.2:c.590A>C | ENSP00000256474.2:p.Asp197Ala | |
| ENST00000345392.2:c.467A>C | ENSP00000344757.2:p.Asp156Ala | |
| ENST00000477538.1:n.726A>C | ||
| NM_000551.3:c.590A>C , LRG_322t1:c.590A>C | NP_000542.1:p.Asp197Ala | |
| NM_198156.2:c.467A>C | NP_937799.1:p.Asp156Ala | |
| NM_001354723.1:c.*144A>C | NP_001341652.1:n.*144A>C | |
| NM_000551.4:c.590A>C MANE Select | NP_000542.1:p.Asp197Ala | |
| NM_001354723.2:c.*144A>C | NP_001341652.1:n.*144A>C | |
| NM_198156.3:c.467A>C | NP_937799.1:p.Asp156Ala |