Linked Data
dbSNP Id:
rs10988217
gnomAD v2:
9-131888116-A-G
gnomAD v3:
9-129125837-A-G
gnomAD v4:
9-129125837-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129125837A>G , CM000671.2:g.129125837A>G | GRCh38 |
| NC_000009.11:g.131888116A>G , CM000671.1:g.131888116A>G | GRCh37 |
| NC_000009.10:g.130927937A>G | NCBI36 |
| NG_029370.1:g.19889A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337738.6:c.217-2127A>G | ENSP00000337448.1:n.217-2127A>G | |
| ENST00000358994.9:c.366+2699A>G | ENSP00000351885.5:n.366+2699A>G | |
| ENST00000393370.7:c.216+2699A>G MANE Select | ENSP00000377036.2:n.216+2699A>G | |
| ENST00000455292.6:c.367-2127A>G | ENSP00000395499.2:n.367-2127A>G | |
| ENST00000337738.5:c.217-2127A>G | ENSP00000337448.1:n.217-2127A>G | |
| ENST00000347048.8:c.129+5227A>G | ENSP00000337412.4:n.129+5227A>G | |
| ENST00000348141.9:c.234+2699A>G | ENSP00000335200.6:n.234+2699A>G | |
| ENST00000355007.7:c.216+2699A>G | ENSP00000347109.3:n.216+2699A>G | |
| ENST00000357197.8:c.130-3148A>G | ENSP00000349726.4:n.130-3148A>G | |
| ENST00000358994.8:c.216+2699A>G | ENSP00000351885.4:n.216+2699A>G | |
| ENST00000393370.6:c.216+2699A>G | ENSP00000377036.2:n.216+2699A>G | |
| ENST00000414331.5:c.1-2127A>G | ENSP00000399069.1:n.1-2127A>G | |
| ENST00000417504.5:c.285+2699A>G | ENSP00000400314.1:n.285+2699A>G | |
| ENST00000417728.5:c.111+2699A>G | ENSP00000403542.1:n.111+2699A>G | |
| ENST00000440346.1:c.111+2699A>G | ENSP00000393796.1:n.111+2699A>G | |
| ENST00000445241.5:c.217-2127A>G | ENSP00000406997.1:n.217-2127A>G | |
| ENST00000452489.6:c.111+2699A>G | ENSP00000394338.3:n.111+2699A>G | |
| ENST00000453358.5:c.111+2699A>G | ENSP00000393092.1:n.111+2699A>G | |
| ENST00000455292.5:c.217-2127A>G | ENSP00000395499.1:n.217-2127A>G | |
| NM_001193397.1:c.111+2699A>G | NP_001180326.1:n.111+2699A>G | |
| NM_001271832.1:c.130-3148A>G | NP_001258761.1:n.130-3148A>G | |
| NM_021131.4:c.216+2699A>G | NP_066954.2:n.216+2699A>G | |
| NM_178000.2:c.216+2699A>G | NP_821067.1:n.216+2699A>G | |
| NM_178001.2:c.217-2127A>G | NP_821068.1:n.217-2127A>G | |
| NM_178003.2:c.216+2699A>G | NP_821070.1:n.216+2699A>G | |
| XM_011518834.1:c.366+2699A>G | XP_011517136.1:n.366+2699A>G | |
| XM_011518835.1:c.217-2127A>G | XP_011517137.1:n.217-2127A>G | |
| XM_011518836.1:c.280-3148A>G | XP_011517138.1:n.280-3148A>G | |
| XM_011518837.1:c.217-2127A>G | XP_011517139.1:n.217-2127A>G | |
| XM_011518838.1:c.280-3148A>G | XP_011517140.1:n.280-3148A>G | |
| XM_011518834.2:c.366+2699A>G | XP_011517136.1:n.366+2699A>G | |
| XM_011518835.2:c.217-2127A>G | XP_011517137.1:n.217-2127A>G | |
| XM_011518836.2:c.280-3148A>G | XP_011517138.1:n.280-3148A>G | |
| XM_011518837.2:c.217-2127A>G | XP_011517139.1:n.217-2127A>G | |
| XM_011518838.2:c.280-3148A>G | XP_011517140.1:n.280-3148A>G | |
| XM_017014888.2:c.216+2699A>G | XP_016870377.1:n.216+2699A>G | |
| NM_021131.5:c.216+2699A>G | NP_066954.2:n.216+2699A>G | |
| NM_178000.3:c.216+2699A>G MANE Select | NP_821067.1:n.216+2699A>G | |
| NM_178003.3:c.216+2699A>G | NP_821070.1:n.216+2699A>G | |
| NM_001193397.2:c.111+2699A>G | NP_001180326.1:n.111+2699A>G | |
| NM_001271832.2:c.130-3148A>G | NP_001258761.1:n.130-3148A>G | |
| NM_178001.3:c.217-2127A>G | NP_821068.1:n.217-2127A>G |