Linked Data
dbSNP Id:
rs1301830639
gnomAD v2:
20-32881573-C-T
gnomAD v3:
20-34293767-C-T
gnomAD v4:
20-34293767-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34293767C>T , CM000682.2:g.34293767C>T | GRCh38 |
| NC_000020.10:g.32881573C>T , CM000682.1:g.32881573C>T | GRCh37 |
| NC_000020.9:g.32345234C>T | NCBI36 |
| NG_012630.1:g.23036G>A | |
| NG_012630.2:g.23036G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217426.7:c.295+314G>A MANE Select | ENSP00000217426.2:n.295+314G>A | |
| ENST00000217426.6:c.295+314G>A | ENSP00000217426.2:n.295+314G>A | |
| ENST00000468908.1:n.458+314G>A | ||
| ENST00000480653.5:n.342+314G>A | ||
| ENST00000538132.1:c.211+314G>A | ENSP00000442820.1:n.211+314G>A | |
| ENST00000606061.1:n.869G>A | ||
| NM_000687.2:c.295+314G>A | NP_000678.1:n.295+314G>A | |
| NM_001161766.1:c.211+314G>A | NP_001155238.1:n.211+314G>A | |
| XM_005260316.3:c.211+314G>A | XP_005260373.1:n.211+314G>A | |
| XM_005260317.1:c.211+314G>A | XP_005260374.1:n.211+314G>A | |
| XM_011528656.1:c.211+314G>A | XP_011526958.1:n.211+314G>A | |
| XM_011528657.1:c.211+314G>A | XP_011526959.1:n.211+314G>A | |
| XM_011528658.1:c.211+314G>A | XP_011526960.1:n.211+314G>A | |
| XM_011528659.1:c.211+314G>A | XP_011526961.1:n.211+314G>A | |
| XM_011528660.1:c.211+314G>A | XP_011526962.1:n.211+314G>A | |
| NM_000687.3:c.295+314G>A | NP_000678.1:n.295+314G>A | |
| NM_001322084.1:c.211+314G>A | NP_001309013.1:n.211+314G>A | |
| NM_001322085.1:c.211+314G>A | NP_001309014.1:n.211+314G>A | |
| NM_001322086.1:c.301+314G>A | NP_001309015.1:n.301+314G>A | |
| NM_001362750.1:c.295+314G>A | NP_001349679.1:n.295+314G>A | |
| XM_005260317.2:c.211+314G>A | XP_005260374.1:n.211+314G>A | |
| XM_011528656.3:c.301+314G>A | XP_011526958.2:n.301+314G>A | |
| XM_011528657.2:c.301+314G>A | XP_011526959.2:n.301+314G>A | |
| XM_011528658.3:c.301+314G>A | XP_011526960.2:n.301+314G>A | |
| XM_017027709.2:c.295+314G>A | XP_016883198.1:n.295+314G>A | |
| XM_017027710.2:c.-130+314G>A | XP_016883199.1:n.-130+314G>A | |
| NM_000687.4:c.295+314G>A MANE Select | NP_000678.1:n.295+314G>A | |
| NM_001322084.2:c.211+314G>A | NP_001309013.1:n.211+314G>A | |
| NM_001322085.2:c.211+314G>A | NP_001309014.1:n.211+314G>A | |
| NM_001322086.2:c.301+314G>A | NP_001309015.1:n.301+314G>A | |
| NM_001362750.2:c.295+314G>A | NP_001349679.1:n.295+314G>A | |
| NM_001161766.2:c.211+314G>A | NP_001155238.1:n.211+314G>A |