Linked Data
dbSNP Id:
rs224176
gnomAD v2:
16-3253133-A-G
gnomAD v3:
16-3203133-A-G
gnomAD v4:
16-3203133-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3203133A>G , CM000678.2:g.3203133A>G | GRCh38 |
| NC_000016.9:g.3253133A>G , CM000678.1:g.3253133A>G | GRCh37 |
| NC_000016.8:g.3193134A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304646.3:c.-12-1102A>G MANE Select | ENSP00000305424.2:n.-12-1102A>G | |
| ENST00000576468.1:n.418+11796A>G | ||
| ENST00000652759.1:n.424-2208A>G | ||
| XM_011522506.1:c.19-1102A>G | XP_011520808.1:n.19-1102A>G | |
| XM_011522507.1:c.-12-1102A>G | XP_011520809.1:n.-12-1102A>G | |
| XM_011522508.1:c.-12-1102A>G | XP_011520810.1:n.-12-1102A>G | |
| XM_011522509.1:c.-346A>G | XP_011520811.1:n.-346A>G | |
| XM_011522506.3:c.19-1102A>G | XP_011520808.1:n.19-1102A>G | |
| XM_011522507.3:c.-12-1102A>G | XP_011520809.1:n.-12-1102A>G | |
| NM_001370639.1:c.19-1102A>G | NP_001357568.1:n.19-1102A>G | |
| NM_001370640.2:c.19-1102A>G | NP_001357569.1:n.19-1102A>G | |
| NM_001370641.1:c.-252-94A>G | NP_001357570.1:n.-252-94A>G | |
| NM_012360.2:c.-12-1102A>G | NP_036492.1:n.-12-1102A>G | |
| NM_001370640.3:c.19-1102A>G | NP_001357569.1:n.19-1102A>G |