Linked Data
dbSNP Id:
rs2251844
gnomAD v2:
15-43836478-T-C
gnomAD v3:
15-43544280-T-C
gnomAD v4:
15-43544280-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43544280T>C , CM000677.2:g.43544280T>C | GRCh38 |
| NC_000015.9:g.43836478T>C , CM000677.1:g.43836478T>C | GRCh37 |
| NC_000015.8:g.41623770T>C | NCBI36 |
| NG_022929.1:g.50974A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707073.1:c.3461-4697A>G | ENSP00000516724.1:n.3461-4697A>G | |
| ENST00000420765.6:c.3557-4697A>G MANE Select | ENSP00000400887.2:n.3557-4697A>G | |
| ENST00000644537.1:c.1397-4697A>G | ENSP00000496290.1:n.1397-4697A>G | |
| ENST00000334933.8:c.3311-4697A>G | ENSP00000334779.4:n.3311-4697A>G | |
| ENST00000348806.10:c.3185-4697A>G | ENSP00000308773.10:n.3185-4697A>G | |
| ENST00000360135.8:c.3185-4697A>G | ENSP00000353253.4:n.3185-4697A>G | |
| ENST00000360301.8:c.3311-4697A>G | ENSP00000353446.4:n.3311-4697A>G | |
| ENST00000381879.8:c.3314-4697A>G | ENSP00000371303.4:n.3314-4697A>G | |
| ENST00000381885.5:c.3374-4697A>G | ENSP00000371309.1:n.3374-4697A>G | |
| ENST00000396923.7:c.3386-4697A>G | ENSP00000380129.2:n.3386-4697A>G | |
| ENST00000420765.5:c.3386-4697A>G | ENSP00000400887.1:n.3386-4697A>G | |
| NM_001130858.2:c.3386-4697A>G | NP_001124330.1:n.3386-4697A>G | |
| NM_001130859.2:c.3311-4697A>G | NP_001124331.1:n.3311-4697A>G | |
| NM_001190214.1:c.3185-4697A>G | NP_001177143.1:n.3185-4697A>G | |
| NM_014659.5:c.3311-4697A>G | NP_055474.3:n.3311-4697A>G | |
| XM_005254803.1:c.3374-4697A>G | XP_005254860.1:n.3374-4697A>G | |
| XM_005254804.1:c.3311-4697A>G | XP_005254861.1:n.3311-4697A>G | |
| XM_006720786.1:c.3185-4697A>G | XP_006720849.1:n.3185-4697A>G | |
| XM_011522249.1:c.3524-4697A>G | XP_011520551.1:n.3524-4697A>G | |
| XM_011522250.1:c.3524-4697A>G | XP_011520552.1:n.3524-4697A>G | |
| XM_011522251.1:c.3524-4697A>G | XP_011520553.1:n.3524-4697A>G | |
| XM_011522252.1:c.3524-4697A>G | XP_011520554.1:n.3524-4697A>G | |
| XM_011522253.1:c.3524-4697A>G | XP_011520555.1:n.3524-4697A>G | |
| XM_011522254.1:c.3524-4697A>G | XP_011520556.1:n.3524-4697A>G | |
| XM_011522255.1:c.3500-4697A>G | XP_011520557.1:n.3500-4697A>G | |
| XM_011522256.1:c.3461-4697A>G | XP_011520558.1:n.3461-4697A>G | |
| XM_011522257.1:c.3335-4697A>G | XP_011520559.1:n.3335-4697A>G | |
| XM_011522258.1:c.2759-4697A>G | XP_011520560.1:n.2759-4697A>G | |
| XM_011522259.1:c.3350-4697A>G | XP_011520561.1:n.3350-4697A>G | |
| NM_001354382.1:c.3374-4697A>G | NP_001341311.1:n.3374-4697A>G | |
| NM_001354383.1:c.3374-4697A>G | NP_001341312.1:n.3374-4697A>G | |
| NM_001354384.1:c.3374-4697A>G | NP_001341313.1:n.3374-4697A>G | |
| NM_001354385.1:c.3374-4697A>G | NP_001341314.1:n.3374-4697A>G | |
| NM_001354386.1:c.3374-4697A>G | NP_001341315.1:n.3374-4697A>G | |
| NM_001354387.1:c.3350-4697A>G | NP_001341316.1:n.3350-4697A>G | |
| NM_001354388.1:c.3350-4697A>G | NP_001341317.1:n.3350-4697A>G | |
| NM_001354389.1:c.3350-4697A>G | NP_001341318.1:n.3350-4697A>G | |
| NM_001354390.1:c.3311-4697A>G | NP_001341319.1:n.3311-4697A>G | |
| NM_001354391.1:c.3311-4697A>G | NP_001341320.1:n.3311-4697A>G | |
| NM_001354392.1:c.3311-4697A>G | NP_001341321.1:n.3311-4697A>G | |
| NM_001354393.1:c.3287-4697A>G | NP_001341322.1:n.3287-4697A>G | |
| NM_001354394.1:c.3227-4697A>G | NP_001341323.1:n.3227-4697A>G | |
| NM_001354395.1:c.3185-4697A>G | NP_001341324.1:n.3185-4697A>G | |
| NM_001354396.1:c.3185-4697A>G | NP_001341325.1:n.3185-4697A>G | |
| NM_001354397.1:c.3185-4697A>G | NP_001341326.1:n.3185-4697A>G | |
| NM_001354398.1:c.2546-4697A>G | NP_001341327.1:n.2546-4697A>G | |
| NM_001354399.1:c.2546-4697A>G | NP_001341328.1:n.2546-4697A>G | |
| NM_001354400.1:c.2546-4697A>G | NP_001341329.1:n.2546-4697A>G | |
| NM_001354401.1:c.1382-4697A>G | NP_001341330.1:n.1382-4697A>G | |
| NM_001354402.1:c.1295-4697A>G | NP_001341331.1:n.1295-4697A>G | |
| XM_006720786.2:c.3185-4697A>G | XP_006720849.1:n.3185-4697A>G | |
| XM_017022735.1:c.3524-4697A>G | XP_016878224.1:n.3524-4697A>G | |
| XM_017022736.1:c.3524-4697A>G | XP_016878225.1:n.3524-4697A>G | |
| XM_017022737.1:c.3524-4697A>G | XP_016878226.1:n.3524-4697A>G | |
| XM_017022738.1:c.3500-4697A>G | XP_016878227.1:n.3500-4697A>G | |
| XM_017022739.1:c.3461-4697A>G | XP_016878228.1:n.3461-4697A>G | |
| XM_017022741.1:c.3374-4697A>G | XP_016878230.1:n.3374-4697A>G | |
| XM_017022747.1:c.3335-4697A>G | XP_016878236.1:n.3335-4697A>G | |
| XM_017022748.1:c.3311-4697A>G | XP_016878237.1:n.3311-4697A>G | |
| XM_017022753.1:c.3287-4697A>G | XP_016878242.1:n.3287-4697A>G | |
| XM_017022754.1:c.3185-4697A>G | XP_016878243.1:n.3185-4697A>G | |
| NM_001130858.4:c.3386-4697A>G | NP_001124330.1:n.3386-4697A>G | |
| NM_001130859.3:c.3311-4697A>G | NP_001124331.1:n.3311-4697A>G | |
| NM_001190214.2:c.3185-4697A>G | NP_001177143.1:n.3185-4697A>G | |
| NM_001354382.3:c.3374-4697A>G | NP_001341311.1:n.3374-4697A>G | |
| NM_001354383.2:c.3374-4697A>G | NP_001341312.1:n.3374-4697A>G | |
| NM_001354384.2:c.3374-4697A>G | NP_001341313.1:n.3374-4697A>G | |
| NM_001354385.2:c.3374-4697A>G | NP_001341314.1:n.3374-4697A>G | |
| NM_001354387.2:c.3350-4697A>G | NP_001341316.1:n.3350-4697A>G | |
| NM_001354388.2:c.3350-4697A>G | NP_001341317.1:n.3350-4697A>G | |
| NM_001354390.2:c.3311-4697A>G | NP_001341319.1:n.3311-4697A>G | |
| NM_001354391.2:c.3311-4697A>G | NP_001341320.1:n.3311-4697A>G | |
| NM_001354392.2:c.3311-4697A>G | NP_001341321.1:n.3311-4697A>G | |
| NM_001354393.2:c.3287-4697A>G | NP_001341322.1:n.3287-4697A>G | |
| NM_001354394.2:c.3227-4697A>G | NP_001341323.1:n.3227-4697A>G | |
| NM_001354395.2:c.3185-4697A>G | NP_001341324.1:n.3185-4697A>G | |
| NM_001354396.2:c.3185-4697A>G | NP_001341325.1:n.3185-4697A>G | |
| NM_001354397.2:c.3185-4697A>G | NP_001341326.1:n.3185-4697A>G | |
| NM_001354398.2:c.2546-4697A>G | NP_001341327.1:n.2546-4697A>G | |
| NM_001354399.2:c.2546-4697A>G | NP_001341328.1:n.2546-4697A>G | |
| NM_001354401.2:c.1382-4697A>G | NP_001341330.1:n.1382-4697A>G | |
| NM_001354402.2:c.1295-4697A>G | NP_001341331.1:n.1295-4697A>G | |
| NM_001393969.1:c.3461-4697A>G | NP_001380898.1:n.3461-4697A>G | |
| NM_001393970.1:c.3461-4697A>G | NP_001380899.1:n.3461-4697A>G | |
| NM_001393971.1:c.3437-4697A>G | NP_001380900.1:n.3437-4697A>G | |
| NM_001354386.2:c.3374-4697A>G | NP_001341315.1:n.3374-4697A>G | |
| NM_001354389.2:c.3350-4697A>G | NP_001341318.1:n.3350-4697A>G | |
| NM_001354400.2:c.2546-4697A>G | NP_001341329.1:n.2546-4697A>G | |
| NM_001394395.1:c.3557-4697A>G MANE Select | NP_001381324.1:n.3557-4697A>G | |
| NM_014659.6:c.3311-4697A>G | NP_055474.3:n.3311-4697A>G |