Linked Data
ClinVar Variation Id:
727612
dbSNP Id:
rs1575932227
gnomAD v4:
3-10149839-T-G
MyVariant Identifiers:
chr3:g.10191523T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149839T>G , CM000665.2:g.10149839T>G | GRCh38 |
| NC_000003.11:g.10191523T>G , CM000665.1:g.10191523T>G | GRCh37 |
| NC_000003.10:g.10166523T>G | NCBI36 |
| NG_008212.3:g.13205T>G , LRG_322:g.13205T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*193T>G | ENSP00000512434.1:n.*193T>G | |
| ENST00000696143.1:c.652T>G | ENSP00000512435.1:n.652T>G | |
| ENST00000696153.1:c.627T>G | ENSP00000512444.1:p.Pro209= | |
| ENST00000256474.3:c.516T>G MANE Select | ENSP00000256474.3:p.Pro172= | |
| ENST00000256474.2:c.516T>G | ENSP00000256474.2:p.Pro172= | |
| ENST00000345392.2:c.393T>G | ENSP00000344757.2:p.Pro131= | |
| ENST00000477538.1:n.652T>G | ||
| NM_000551.3:c.516T>G , LRG_322t1:c.516T>G | NP_000542.1:p.Pro172= | |
| NM_198156.2:c.393T>G | NP_937799.1:p.Pro131= | |
| NM_001354723.1:c.*70T>G | NP_001341652.1:n.*70T>G | |
| NM_000551.4:c.516T>G MANE Select | NP_000542.1:p.Pro172= | |
| NM_001354723.2:c.*70T>G | NP_001341652.1:n.*70T>G | |
| NM_198156.3:c.393T>G | NP_937799.1:p.Pro131= |