Linked Data
dbSNP Id:
rs12149070
gnomAD v2:
16-70913984-C-T
gnomAD v3:
16-70880081-C-T
gnomAD v4:
16-70880081-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70880081C>T , CM000678.2:g.70880081C>T | GRCh38 |
| NC_000016.9:g.70913984C>T , CM000678.1:g.70913984C>T | GRCh37 |
| NG_033116.1:g.355642G>A | |
| NG_033116.2:g.355642G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393567.7:c.10216-325G>A MANE Select | ENSP00000377197.2:n.10216-325G>A | |
| ENST00000393567.6:c.10216-325G>A | ENSP00000377197.2:n.10216-325G>A | |
| NM_001270974.1:c.10216-325G>A | NP_001257903.1:n.10216-325G>A | |
| XM_006721206.2:c.10267-325G>A | XP_006721269.1:n.10267-325G>A | |
| XM_011523146.1:c.10399-325G>A | XP_011521448.1:n.10399-325G>A | |
| XM_011523147.1:c.10369-325G>A | XP_011521449.1:n.10369-325G>A | |
| XM_011523148.1:c.10318-325G>A | XP_011521450.1:n.10318-325G>A | |
| XM_011523149.1:c.10318-325G>A | XP_011521451.1:n.10318-325G>A | |
| XM_011523150.1:c.10318-325G>A | XP_011521452.1:n.10318-325G>A | |
| XM_011523151.1:c.10297-325G>A | XP_011521453.1:n.10297-325G>A | |
| XM_011523152.1:c.4078-325G>A | XP_011521454.1:n.4078-325G>A | |
| XM_011523153.1:c.3604-325G>A | XP_011521455.1:n.3604-325G>A | |
| XM_011523154.1:c.3196-325G>A | XP_011521456.1:n.3196-325G>A | |
| XM_011523155.1:c.3106-325G>A | XP_011521457.1:n.3106-325G>A | |
| NM_001270974.2:c.10216-325G>A MANE Select | NP_001257903.1:n.10216-325G>A | |
| XM_006721206.3:c.10267-325G>A | XP_006721269.1:n.10267-325G>A | |
| XM_011523146.2:c.10399-325G>A | XP_011521448.1:n.10399-325G>A | |
| XM_011523151.2:c.10297-325G>A | XP_011521453.1:n.10297-325G>A | |
| XM_011523155.2:c.3106-325G>A | XP_011521457.1:n.3106-325G>A | |
| XM_017023346.2:c.10336-325G>A | XP_016878835.1:n.10336-325G>A | |
| XM_017023347.1:c.8428-325G>A | XP_016878836.1:n.8428-325G>A | |
| XM_017023348.1:c.8428-325G>A | XP_016878837.1:n.8428-325G>A |