Linked Data
dbSNP Id:
rs1373453
gnomAD v2:
12-70054910-A-G
gnomAD v3:
12-69661130-A-G
gnomAD v4:
12-69661130-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69661130A>G , CM000674.2:g.69661130A>G | GRCh38 |
| NC_000012.11:g.70054910A>G , CM000674.1:g.70054910A>G | GRCh37 |
| NC_000012.10:g.68341177A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330891.10:c.1101-5317T>C MANE Select | ENSP00000332413.5:n.1101-5317T>C | |
| ENST00000330891.9:c.1101-5317T>C | ENSP00000332413.5:n.1101-5317T>C | |
| ENST00000331471.8:c.1100+10298T>C | ENSP00000329064.4:n.1100+10298T>C | |
| ENST00000488961.5:c.462-5317T>C | ENSP00000433213.1:n.462-5317T>C | |
| ENST00000547208.5:c.*118+10298T>C | ENSP00000449868.1:n.*118+10298T>C | |
| ENST00000553096.5:c.783-5317T>C | ENSP00000449548.1:n.783-5317T>C | |
| NM_001282613.1:c.783-5317T>C | NP_001269542.1:n.783-5317T>C | |
| NM_001282614.1:c.1100+10298T>C | NP_001269543.1:n.1100+10298T>C | |
| NM_032735.2:c.1101-5317T>C | NP_116124.2:n.1101-5317T>C | |
| NM_152439.3:c.462-5317T>C | NP_689652.2:n.462-5317T>C | |
| XM_006719252.2:c.867-5317T>C | XP_006719315.1:n.867-5317T>C | |
| XM_011537961.1:c.783-5317T>C | XP_011536263.1:n.783-5317T>C | |
| XM_011537962.1:c.615-5317T>C | XP_011536264.1:n.615-5317T>C | |
| XM_011537963.1:c.615-5317T>C | XP_011536265.1:n.615-5317T>C | |
| XM_011537964.1:c.615-5317T>C | XP_011536266.1:n.615-5317T>C | |
| XM_011537965.1:c.129-5317T>C | XP_011536267.1:n.129-5317T>C | |
| XM_011537962.2:c.615-5317T>C | XP_011536264.1:n.615-5317T>C | |
| XM_011537965.2:c.129-5317T>C | XP_011536267.1:n.129-5317T>C | |
| XM_024448853.1:c.1101-5317T>C | XP_024304621.1:n.1101-5317T>C | |
| XM_024448854.1:c.783-5317T>C | XP_024304622.1:n.783-5317T>C | |
| XM_024448855.1:c.615-5317T>C | XP_024304623.1:n.615-5317T>C | |
| XM_024448856.1:c.615-5317T>C | XP_024304624.1:n.615-5317T>C | |
| XR_001749451.1:n.346+22116A>G | ||
| XR_945062.2:n.346+22116A>G | ||
| NM_032735.3:c.1101-5317T>C MANE Select | NP_116124.2:n.1101-5317T>C | |
| NM_001282613.2:c.783-5317T>C | NP_001269542.1:n.783-5317T>C | |
| NM_001282614.2:c.1100+10298T>C | NP_001269543.1:n.1100+10298T>C | |
| NM_152439.4:c.462-5317T>C | NP_689652.2:n.462-5317T>C |