Linked Data
ClinVar Variation Id:
2814578
ClinVar RCV Id:
RCV003682986
dbSNP Id:
rs778798308
gnomAD v2:
4-6304068-A-C
gnomAD v3:
4-6302341-A-C
gnomAD v4:
4-6302341-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302341A>C , CM000666.2:g.6302341A>C | GRCh38 |
| NC_000004.11:g.6304068A>C , CM000666.1:g.6304068A>C | GRCh37 |
| NC_000004.10:g.6354969A>C | NCBI36 |
| NG_011700.1:g.37492A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2582A>C | ENSP00000507852.1:p.Asn861Thr | |
| ENST00000683395.1:c.2523A>C | ||
| ENST00000684087.1:c.2546A>C | ENSP00000506978.1:p.Asn849Thr | |
| ENST00000506362.2:c.2297A>C | ENSP00000424103.2:p.Asn766Thr | |
| ENST00000673991.1:c.2582A>C | ENSP00000501033.1:p.Asn861Thr | |
| ENST00000226760.5:c.2546A>C MANE Select | ENSP00000226760.1:p.Asn849Thr | |
| ENST00000503569.5:c.2546A>C | ENSP00000423337.1:p.Asn849Thr | |
| ENST00000507765.1:n.2731A>C | ||
| NM_001145853.1:c.2546A>C | NP_001139325.1:p.Asn849Thr | |
| NM_006005.3:c.2546A>C MANE Select | NP_005996.2:p.Asn849Thr | |
| XM_017008586.1:c.2555A>C | XP_016864075.1:p.Asn852Thr |