Linked Data
ClinVar Variation Id:
295175
dbSNP Id:
rs1044516
gnomAD v2:
1-209959614-G-T
gnomAD v3:
1-209786269-G-T
gnomAD v4:
1-209786269-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209786269G>T , CM000663.2:g.209786269G>T | GRCh38 |
| NC_000001.10:g.209959614G>T , CM000663.1:g.209959614G>T | GRCh37 |
| NC_000001.9:g.208026237G>T | NCBI36 |
| NG_007081.2:g.24866C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696133.1:c.1400+2155C>A | ENSP00000512426.1:n.1400+2155C>A | |
| ENST00000696134.1:c.*2982C>A | ENSP00000512427.1:n.*2982C>A | |
| ENST00000367021.8:c.*2151C>A MANE Select | ENSP00000355988.3:n.*2151C>A | |
| ENST00000367021.7:c.*2151C>A | ENSP00000355988.3:n.*2151C>A | |
| ENST00000542854.5:c.*2151C>A | ENSP00000440532.1:n.*2151C>A | |
| NM_001206696.1:c.*2151C>A | NP_001193625.1:n.*2151C>A | |
| NM_006147.3:c.*2151C>A | NP_006138.1:n.*2151C>A | |
| NM_006147.4:c.*2151C>A MANE Select | NP_006138.1:n.*2151C>A | |
| NM_001206696.2:c.*2151C>A | NP_001193625.1:n.*2151C>A |