Linked Data
ClinVar Variation Id:
2830433
ClinVar RCV Id:
RCV003678739
dbSNP Id:
rs1292294240
gnomAD v2:
1-169454933-C-T
gnomAD v4:
1-169485695-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169485695C>T , CM000663.2:g.169485695C>T | GRCh38 |
| NC_000001.10:g.169454933C>T , CM000663.1:g.169454933C>T | GRCh37 |
| NC_000001.9:g.167721557C>T | NCBI36 |
| NG_008255.1:g.5276G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236137.10:c.72G>A MANE Select | ENSP00000236137.5:p.Arg24= | |
| ENST00000646596.1:c.72G>A | ENSP00000494404.1:p.Arg24= | |
| ENST00000236137.9:c.72G>A | ENSP00000236137.5:p.Arg24= | |
| ENST00000367804.4:c.72G>A | ENSP00000356778.3:p.Arg24= | |
| NM_006996.2:c.72G>A | NP_008927.1:p.Arg24= | |
| XM_011509076.1:c.12+358G>A | XP_011507378.1:n.12+358G>A | |
| XM_011509077.1:c.72G>A | XP_011507379.1:p.Arg24= | |
| NM_001319667.1:c.72G>A | NP_001306596.1:p.Arg24= | |
| NM_006996.3:c.72G>A MANE Select | NP_008927.1:p.Arg24= |