Linked Data
dbSNP Id:
rs12126638
gnomAD v2:
1-216175696-T-C
gnomAD v3:
1-216002354-T-C
gnomAD v4:
1-216002354-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216002354T>C , CM000663.2:g.216002354T>C | GRCh38 |
| NC_000001.10:g.216175696T>C , CM000663.1:g.216175696T>C | GRCh37 |
| NC_000001.9:g.214242319T>C | NCBI36 |
| NG_009497.1:g.426043A>G | |
| NG_009497.2:g.426095A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.6326-1792A>G MANE Select | ENSP00000305941.3:n.6326-1792A>G | |
| ENST00000674083.1:c.6326-1792A>G | ENSP00000501296.1:n.6326-1792A>G | |
| ENST00000307340.7:c.6326-1792A>G | ENSP00000305941.3:n.6326-1792A>G | |
| NM_206933.2:c.6326-1792A>G | NP_996816.2:n.6326-1792A>G | |
| NM_206933.3:c.6326-1792A>G | NP_996816.2:n.6326-1792A>G | |
| NM_206933.4:c.6326-1792A>G MANE Select | NP_996816.3:n.6326-1792A>G |