Linked Data
dbSNP Id:
rs10510411
gnomAD v2:
3-12346849-G-A
gnomAD v3:
3-12305350-G-A
gnomAD v4:
3-12305350-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12305350G>A , CM000665.2:g.12305350G>A | GRCh38 |
| NC_000003.11:g.12346849G>A , CM000665.1:g.12346849G>A | GRCh37 |
| NC_000003.10:g.12321849G>A | NCBI36 |
| NG_011749.1:g.22501G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681966.1:c.-82-7030G>A | ENSP00000507572.1:n.-82-7030G>A | |
| ENST00000681982.1:c.-170-7030G>A | ENSP00000508065.1:n.-170-7030G>A | |
| ENST00000682446.1:c.-188-504G>A | ENSP00000506813.1:n.-188-504G>A | |
| ENST00000683586.1:c.-83+3501G>A | ENSP00000507893.1:n.-83+3501G>A | |
| ENST00000684065.1:c.-83+3501G>A | ENSP00000508347.1:n.-83+3501G>A | |
| ENST00000309576.11:c.-82-7030G>A | ENSP00000312472.7:n.-82-7030G>A | |
| ENST00000397010.7:c.-82-7030G>A | ENSP00000380205.3:n.-82-7030G>A | |
| ENST00000397015.7:c.-9+17330G>A | ENSP00000380210.3:n.-9+17330G>A | |
| ENST00000397026.7:c.-343-7030G>A | ENSP00000380221.3:n.-343-7030G>A | |
| ENST00000397029.8:c.-9+17675G>A | ENSP00000380224.4:n.-9+17675G>A | |
| ENST00000455517.6:c.-9+16216G>A | ENSP00000411931.2:n.-9+16216G>A | |
| ENST00000643197.2:c.-83+3501G>A | ENSP00000495840.2:n.-83+3501G>A | |
| ENST00000643888.2:c.-170-7030G>A | ENSP00000494934.2:n.-170-7030G>A | |
| ENST00000644622.2:c.-83+3501G>A | ENSP00000494873.2:n.-83+3501G>A | |
| ENST00000651735.1:c.-82-7030G>A MANE Select | ENSP00000498313.1:n.-82-7030G>A | |
| ENST00000652098.1:c.-91-7030G>A | ENSP00000498300.1:n.-91-7030G>A | |
| ENST00000652431.1:c.-166-7030G>A | ENSP00000498717.1:n.-166-7030G>A | |
| ENST00000652522.1:c.-82-7030G>A | ENSP00000498500.1:n.-82-7030G>A | |
| ENST00000309576.10:c.-76-7030G>A | ENSP00000312472.6:n.-76-7030G>A | |
| ENST00000397010.6:c.-76-7030G>A | ENSP00000380205.2:n.-76-7030G>A | |
| ENST00000397012.6:c.-76-7030G>A | ENSP00000380207.2:n.-76-7030G>A | |
| ENST00000397015.6:c.-3+17330G>A | ENSP00000380210.2:n.-3+17330G>A | |
| ENST00000397026.6:c.-319-7030G>A | ENSP00000380221.2:n.-319-7030G>A | |
| ENST00000397029.7:c.-3+17675G>A | ENSP00000380224.3:n.-3+17675G>A | |
| ENST00000455517.5:c.-3+16216G>A | ENSP00000411931.1:n.-3+16216G>A | |
| ENST00000497594.5:n.25-7030G>A | ||
| NM_005037.5:c.-3+17330G>A | NP_005028.4:n.-3+17330G>A | |
| NM_138711.3:c.-76-7030G>A | NP_619725.2:n.-76-7030G>A | |
| NM_138712.3:c.-76-7030G>A | NP_619726.2:n.-76-7030G>A | |
| XM_011533841.1:c.-3+16216G>A | XP_011532143.1:n.-3+16216G>A | |
| XM_011533844.1:c.-76-7030G>A | XP_011532146.1:n.-76-7030G>A | |
| NM_001354666.1:c.-76-7030G>A | NP_001341595.1:n.-76-7030G>A | |
| NM_001354667.1:c.-3+16216G>A | NP_001341596.1:n.-3+16216G>A | |
| NM_001354669.1:c.-509-7030G>A | NP_001341598.1:n.-509-7030G>A | |
| NM_001354670.1:c.-76-7030G>A | NP_001341599.1:n.-76-7030G>A | |
| XM_024453604.1:c.-77+3501G>A | XP_024309372.1:n.-77+3501G>A | |
| XM_024453605.1:c.-686G>A | XP_024309373.1:n.-686G>A | |
| NM_001330615.2:c.-76-7030G>A | NP_001317544.1:n.-76-7030G>A | |
| NM_001354666.2:c.-76-7030G>A | NP_001341595.1:n.-76-7030G>A | |
| NM_001354667.2:c.-3+16216G>A | NP_001341596.1:n.-3+16216G>A | |
| NM_001354669.2:c.-509-7030G>A | NP_001341598.1:n.-509-7030G>A | |
| NM_001354670.2:c.-76-7030G>A | NP_001341599.1:n.-76-7030G>A | |
| NM_001374261.1:c.-76-7030G>A | NP_001361190.1:n.-76-7030G>A | |
| NM_001374262.1:c.-164-7030G>A | NP_001361191.1:n.-164-7030G>A | |
| NM_001374263.1:c.-77+3501G>A | NP_001361192.1:n.-77+3501G>A | |
| NM_001374264.1:c.-77+3314G>A | NP_001361193.1:n.-77+3314G>A | |
| NM_001374266.1:c.-76-7030G>A | NP_001361195.1:n.-76-7030G>A | |
| NM_005037.6:c.-3+17330G>A | NP_005028.4:n.-3+17330G>A | |
| NM_138711.4:c.-76-7030G>A | NP_619725.2:n.-76-7030G>A | |
| NM_138712.4:c.-76-7030G>A | NP_619726.2:n.-76-7030G>A | |
| NM_001330615.4:c.-82-7030G>A | NP_001317544.2:n.-82-7030G>A | |
| NM_001354666.3:c.-82-7030G>A | NP_001341595.2:n.-82-7030G>A | |
| NM_001354667.3:c.-9+16216G>A | NP_001341596.2:n.-9+16216G>A | |
| NM_001374261.3:c.-82-7030G>A | NP_001361190.2:n.-82-7030G>A | |
| NM_001374262.3:c.-170-7030G>A | NP_001361191.2:n.-170-7030G>A | |
| NM_001374263.2:c.-83+3501G>A | NP_001361192.2:n.-83+3501G>A | |
| NM_001374264.2:c.-83+3314G>A | NP_001361193.2:n.-83+3314G>A | |
| NM_005037.7:c.-9+17330G>A | NP_005028.5:n.-9+17330G>A | |
| NM_138711.6:c.-82-7030G>A MANE Select | NP_619725.3:n.-82-7030G>A | |
| NM_138712.5:c.-82-7030G>A | NP_619726.3:n.-82-7030G>A |