Linked Data
ClinVar Variation Id:
543261
dbSNP Id:
rs139159572
ExAC:
1:10408727 A / C
gnomAD v2:
1-10408727-A-C
gnomAD v3:
1-10348669-A-C
gnomAD v4:
1-10348669-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10348669A>C , CM000663.2:g.10348669A>C | GRCh38 |
| NC_000001.10:g.10408727A>C , CM000663.1:g.10408727A>C | GRCh37 |
| NC_000001.9:g.10331314A>C | NCBI36 |
| NG_008069.1:g.142964A>C , LRG_252:g.142964A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696502.1:c.3948A>C | ENSP00000512668.1:p.Thr1316= | |
| ENST00000696503.1:c.3810A>C | ENSP00000512669.1:p.Thr1270= | |
| ENST00000696504.1:c.3810A>C | ENSP00000512670.1:p.Thr1270= | |
| ENST00000676179.1:c.3885A>C MANE Select | ENSP00000502065.1:p.Thr1295= | |
| ENST00000263934.10:c.3747A>C | ENSP00000263934.6:p.Thr1249= | |
| ENST00000377081.5:c.3885A>C | ENSP00000366284.1:p.Thr1295= | |
| ENST00000377086.5:c.3885A>C | ENSP00000366290.1:p.Thr1295= | |
| ENST00000465635.5:n.340A>C | ||
| ENST00000483340.1:n.421A>C | ||
| ENST00000620295.2:c.3843A>C | ENSP00000478500.1:p.Thr1281= | |
| ENST00000622724.3:c.3807A>C | ENSP00000480063.1:p.Thr1269= | |
| NM_015074.3:c.3747A>C , LRG_252t1:c.3747A>C | NP_055889.2:p.Thr1249= | |
| NM_001365951.1:c.3885A>C | NP_001352880.1:p.Thr1295= | |
| NM_001365952.1:c.3885A>C | NP_001352881.1:p.Thr1295= | |
| NM_001365951.3:c.3885A>C MANE Select | NP_001352880.1:p.Thr1295= |