Linked Data
dbSNP Id:
rs10502094
gnomAD v2:
11-107430054-A-G
gnomAD v3:
11-107559328-A-G
gnomAD v4:
11-107559328-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.107559328A>G , CM000673.2:g.107559328A>G | GRCh38 |
| NC_000011.9:g.107430054A>G , CM000673.1:g.107430054A>G | GRCh37 |
| NC_000011.8:g.106935264A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000428149.7:c.129+1437T>C MANE Select | ENSP00000415885.2:n.129+1437T>C | |
| ENST00000260318.6:c.129+1437T>C | ENSP00000260318.2:n.129+1437T>C | |
| ENST00000389568.7:c.129+1437T>C | ENSP00000374219.3:n.129+1437T>C | |
| ENST00000393100.3:c.129+1437T>C | ENSP00000376812.3:n.129+1437T>C | |
| ENST00000417449.6:c.138+1437T>C | ENSP00000397673.2:n.138+1437T>C | |
| ENST00000428149.6:c.129+1437T>C | ENSP00000415885.2:n.129+1437T>C | |
| ENST00000429370.5:c.129+1437T>C | ENSP00000391225.1:n.129+1437T>C | |
| ENST00000530933.1:n.239+1437T>C | ||
| NM_001301010.1:c.138+1437T>C | NP_001287939.1:n.138+1437T>C | |
| NM_138775.2:c.129+1437T>C | NP_620130.2:n.129+1437T>C | |
| XM_005271728.2:c.-278+1437T>C | XP_005271785.1:n.-278+1437T>C | |
| XM_005271729.2:c.-278+1437T>C | XP_005271786.1:n.-278+1437T>C | |
| XM_005271732.2:c.138+1437T>C | XP_005271789.1:n.138+1437T>C | |
| XM_011543067.1:c.138+1437T>C | XP_011541369.1:n.138+1437T>C | |
| XM_005271729.3:c.-278+1437T>C | XP_005271786.1:n.-278+1437T>C | |
| XM_017018553.1:c.138+1437T>C | XP_016874042.1:n.138+1437T>C | |
| XM_017018554.2:c.129+1437T>C | XP_016874043.1:n.129+1437T>C | |
| XM_017018555.1:c.-552+1437T>C | XP_016874044.1:n.-552+1437T>C | |
| XM_017018556.1:c.-552+1437T>C | XP_016874045.1:n.-552+1437T>C | |
| XM_017018557.1:c.138+1437T>C | XP_016874046.1:n.138+1437T>C | |
| XM_024448768.1:c.-557+1437T>C | XP_024304536.1:n.-557+1437T>C | |
| XR_001748035.1:n.243+1437T>C | ||
| NM_001301010.2:c.138+1437T>C | NP_001287939.1:n.138+1437T>C | |
| NM_138775.3:c.129+1437T>C MANE Select | NP_620130.2:n.129+1437T>C | |
| NM_001301010.3:c.129+1437T>C | NP_001287939.2:n.129+1437T>C | |
| NM_001378133.1:c.129+1437T>C | NP_001365062.1:n.129+1437T>C | |
| NR_165421.1:n.270+1437T>C | ||
| NR_165422.1:n.241+1437T>C | ||
| NR_165423.1:n.270+1437T>C | ||
| NR_165424.1:n.270+1437T>C | ||
| NR_165425.1:n.270+1437T>C | ||
| NR_165426.1:n.270+1437T>C |