Linked Data
ClinVar Variation Id:
526669
dbSNP Id:
rs1365445365
gnomAD v2:
3-10191520-G-T
gnomAD v4:
3-10149836-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149836G>T , CM000665.2:g.10149836G>T | GRCh38 |
| NC_000003.11:g.10191520G>T , CM000665.1:g.10191520G>T | GRCh37 |
| NC_000003.10:g.10166520G>T | NCBI36 |
| NG_008212.3:g.13202G>T , LRG_322:g.13202G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*190G>T | ENSP00000512434.1:n.*190G>T | |
| ENST00000696143.1:c.649G>T | ENSP00000512435.1:n.649G>T | |
| ENST00000696153.1:c.624G>T | ENSP00000512444.1:p.Lys208Asn | |
| ENST00000256474.3:c.513G>T MANE Select | ENSP00000256474.3:p.Lys171Asn | |
| ENST00000256474.2:c.513G>T | ENSP00000256474.2:p.Lys171Asn | |
| ENST00000345392.2:c.390G>T | ENSP00000344757.2:p.Lys130Asn | |
| ENST00000477538.1:n.649G>T | ||
| NM_000551.3:c.513G>T , LRG_322t1:c.513G>T | NP_000542.1:p.Lys171Asn | |
| NM_198156.2:c.390G>T | NP_937799.1:p.Lys130Asn | |
| NM_001354723.1:c.*67G>T | NP_001341652.1:n.*67G>T | |
| NM_000551.4:c.513G>T MANE Select | NP_000542.1:p.Lys171Asn | |
| NM_001354723.2:c.*67G>T | NP_001341652.1:n.*67G>T | |
| NM_198156.3:c.390G>T | NP_937799.1:p.Lys130Asn |