Linked Data
dbSNP Id:
rs1203633
gnomAD v2:
1-14086575-C-G
gnomAD v3:
1-13760080-C-G
gnomAD v4:
1-13760080-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.13760080C>G , CM000663.2:g.13760080C>G | GRCh38 |
| NC_000001.10:g.14086575C>G , CM000663.1:g.14086575C>G | GRCh37 |
| NC_000001.9:g.13959162C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311066.10:c.511+10593C>G MANE Select | ENSP00000312352.6:n.511+10593C>G | |
| ENST00000235372.11:c.511+10593C>G | ENSP00000235372.6:n.511+10593C>G | |
| ENST00000311066.9:c.511+10593C>G | ENSP00000312352.5:n.511+10593C>G | |
| ENST00000343137.8:c.-148-9038C>G | ENSP00000341621.4:n.-148-9038C>G | |
| ENST00000376048.9:c.511+10593C>G | ENSP00000365216.5:n.511+10593C>G | |
| ENST00000407521.7:c.-227-8959C>G | ENSP00000384430.3:n.-227-8959C>G | |
| ENST00000413440.5:c.-93+10593C>G | ENSP00000411103.1:n.-93+10593C>G | |
| ENST00000491134.5:c.381-9038C>G | ENSP00000424253.1:n.381-9038C>G | |
| ENST00000491815.1:n.64+10593C>G | ||
| ENST00000502724.5:n.437-9038C>G | ||
| ENST00000502727.5:n.471+10593C>G | ||
| ENST00000503842.5:c.-148-9038C>G | ENSP00000425028.1:n.-148-9038C>G | |
| ENST00000505823.5:c.-93+10593C>G | ENSP00000426737.1:n.-93+10593C>G | |
| NM_001007257.2:c.-93+10593C>G | NP_001007258.1:n.-93+10593C>G | |
| NM_001135610.1:c.511+10593C>G | NP_001129082.1:n.511+10593C>G | |
| NM_012231.4:c.511+10593C>G | NP_036363.2:n.511+10593C>G | |
| NM_015866.4:c.511+10593C>G | NP_056950.2:n.511+10593C>G | |
| XM_005245998.2:c.-148-9038C>G | XP_005246055.1:n.-148-9038C>G | |
| XM_011542092.1:c.-93+10593C>G | XP_011540394.1:n.-93+10593C>G | |
| XM_011542093.1:c.541+10593C>G | XP_011540395.1:n.541+10593C>G | |
| XM_017002255.1:c.511+10593C>G | XP_016857744.1:n.511+10593C>G | |
| XM_017002256.1:c.511+10593C>G | XP_016857745.1:n.511+10593C>G | |
| XM_017002257.1:c.511+10593C>G | XP_016857746.1:n.511+10593C>G | |
| XM_017002259.2:c.-148-9038C>G | XP_016857748.1:n.-148-9038C>G | |
| XM_017002261.2:c.-93+9926C>G | XP_016857750.1:n.-93+9926C>G | |
| XM_017002262.1:c.-148-9038C>G | XP_016857751.1:n.-148-9038C>G | |
| XM_017002263.2:c.-93+9594C>G | XP_016857752.1:n.-93+9594C>G | |
| XM_017002264.2:c.763+10593C>G | XP_016857753.1:n.763+10593C>G | |
| XR_002957562.1:n.93+10593C>G | ||
| NM_001007257.3:c.-93+10593C>G | NP_001007258.1:n.-93+10593C>G | |
| NM_001135610.2:c.511+10593C>G | NP_001129082.1:n.511+10593C>G | |
| NM_001393986.1:c.511+10593C>G MANE Select | NP_001380915.1:n.511+10593C>G | |
| NM_001393987.1:c.-93+10593C>G | NP_001380916.1:n.-93+10593C>G | |
| NM_001393988.1:c.-148-9038C>G | NP_001380917.1:n.-148-9038C>G | |
| NM_012231.5:c.511+10593C>G | NP_036363.2:n.511+10593C>G | |
| NM_015866.6:c.511+10593C>G | NP_056950.2:n.511+10593C>G |