Linked Data
dbSNP Id:
rs11642644
gnomAD v2:
16-84105706-T-C
gnomAD v3:
16-84072101-T-C
gnomAD v4:
16-84072101-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84072101T>C , CM000678.2:g.84072101T>C | GRCh38 |
| NC_000016.9:g.84105706T>C , CM000678.1:g.84105706T>C | GRCh37 |
| NC_000016.8:g.82663207T>C | NCBI36 |
| NG_033017.1:g.49812A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343411.8:c.1594-1325A>G MANE Select | ENSP00000344223.3:n.1594-1325A>G | |
| ENST00000343411.7:c.1594-1325A>G | ENSP00000344223.3:n.1594-1325A>G | |
| ENST00000563231.5:c.534-1325A>G | ||
| ENST00000564643.1:n.424-1325A>G | ||
| ENST00000568051.1:n.37A>G | ||
| ENST00000569770.5:n.702-1325A>G | ||
| ENST00000570064.5:n.838-1325A>G | ||
| NM_003791.3:c.1594-1325A>G | NP_003782.1:n.1594-1325A>G | |
| XM_017023816.2:c.271-1325A>G | XP_016879305.1:n.271-1325A>G | |
| XM_017023817.2:c.106-1325A>G | XP_016879306.1:n.106-1325A>G | |
| XM_024450477.1:c.106-1325A>G | XP_024306245.1:n.106-1325A>G | |
| NM_003791.4:c.1594-1325A>G MANE Select | NP_003782.1:n.1594-1325A>G |