Linked Data
ClinVar Variation Id:
294566
dbSNP Id:
rs698859
gnomAD v2:
1-197008365-C-T
gnomAD v3:
1-197039235-C-T
gnomAD v4:
1-197039235-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039235C>T , CM000663.2:g.197039235C>T | GRCh38 |
| NC_000001.10:g.197008365C>T , CM000663.1:g.197008365C>T | GRCh37 |
| NC_000001.9:g.195274988C>T | NCBI36 |
| NG_012065.1:g.33033G>A , LRG_550:g.33033G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.*143G>A MANE Select | ENSP00000356382.2:n.*143G>A | |
| ENST00000649282.1:c.884G>A | ENSP00000497116.1:n.884G>A | |
| ENST00000367412.1:c.*143G>A | ENSP00000356382.1:n.*143G>A | |
| NM_001994.2:c.*143G>A , LRG_550t1:c.*143G>A | NP_001985.2:n.*143G>A | |
| XM_011509283.2:c.*1064G>A | XP_011507585.1:n.*1064G>A | |
| XM_011509284.2:c.*1064G>A | XP_011507586.1:n.*1064G>A | |
| XM_011509286.2:c.*1064G>A | XP_011507588.1:n.*1064G>A | |
| NM_001994.3:c.*143G>A MANE Select | NP_001985.2:n.*143G>A |