Linked Data
ClinVar Variation Id:
1963626
ClinVar RCV Id:
RCV002740099
dbSNP Id:
rs763525739
ExAC:
3:10188307 T / C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146623T>C , CM000665.2:g.10146623T>C | GRCh38 |
| NC_000003.11:g.10188307T>C , CM000665.1:g.10188307T>C | GRCh37 |
| NC_000003.10:g.10163307T>C | NCBI36 |
| NG_008212.3:g.9989T>C , LRG_322:g.9989T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*127T>C | ENSP00000512434.1:n.*127T>C | |
| ENST00000696143.1:c.600-3164T>C | ENSP00000512435.1:n.600-3164T>C | |
| ENST00000696153.1:c.450T>C | ENSP00000512444.1:p.Asn150= | |
| ENST00000256474.3:c.450T>C MANE Select | ENSP00000256474.3:p.Asn150= | |
| ENST00000256474.2:c.450T>C | ENSP00000256474.2:p.Asn150= | |
| ENST00000345392.2:c.341-3164T>C | ENSP00000344757.2:n.341-3164T>C | |
| ENST00000477538.1:n.586T>C | ||
| NM_000551.3:c.450T>C , LRG_322t1:c.450T>C | NP_000542.1:p.Asn150= | |
| NM_198156.2:c.341-3164T>C | NP_937799.1:n.341-3164T>C | |
| NM_001354723.1:c.*18-3164T>C | NP_001341652.1:n.*18-3164T>C | |
| NM_000551.4:c.450T>C MANE Select | NP_000542.1:p.Asn150= | |
| NM_001354723.2:c.*18-3164T>C | NP_001341652.1:n.*18-3164T>C | |
| NM_198156.3:c.341-3164T>C | NP_937799.1:n.341-3164T>C |