Linked Data
ClinVar Variation Id:
504322
dbSNP Id:
rs377628279
gnomAD v2:
9-140707987-G-A
gnomAD v3:
9-137813535-G-A
gnomAD v4:
9-137813535-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137813535G>A , CM000671.2:g.137813535G>A | GRCh38 |
| NC_000009.11:g.140707987G>A , CM000671.1:g.140707987G>A | GRCh37 |
| NC_000009.10:g.139827808G>A | NCBI36 |
| NG_011776.1:g.199544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3180+5G>A MANE Select | ENSP00000417980.1:n.3180+5G>A | |
| ENST00000637161.1:c.3087+5G>A | ENSP00000490328.1:n.3087+5G>A | |
| ENST00000637261.1:c.3220+5G>A | ENSP00000490815.1:n.3220+5G>A | |
| ENST00000637891.1:c.1074+5G>A | ENSP00000490907.1:n.1074+5G>A | |
| ENST00000460843.5:c.3180+5G>A | ENSP00000417980.1:n.3180+5G>A | |
| ENST00000462942.3:c.2037+5G>A | ENSP00000436107.1:n.2037+5G>A | |
| ENST00000483653.1:n.40+5G>A | ||
| ENST00000488242.2:n.706+5G>A | ||
| NM_024757.4:c.3180+5G>A | NP_079033.4:n.3180+5G>A | |
| XM_005266105.3:c.3171+5G>A | XP_005266162.1:n.3171+5G>A | |
| XM_005266110.1:c.3087+5G>A | XP_005266167.1:n.3087+5G>A | |
| XM_006717288.2:c.3162+5G>A | XP_006717351.1:n.3162+5G>A | |
| XM_011519021.1:c.3189+5G>A | XP_011517323.1:n.3189+5G>A | |
| XM_011519022.1:c.3186+5G>A | XP_011517324.1:n.3186+5G>A | |
| XM_011519023.1:c.3168+5G>A | XP_011517325.1:n.3168+5G>A | |
| XM_011519024.1:c.3111+5G>A | XP_011517326.1:n.3111+5G>A | |
| XM_011519025.1:c.3087+5G>A | XP_011517327.1:n.3087+5G>A | |
| XM_011519026.1:c.3045+5G>A | XP_011517328.1:n.3045+5G>A | |
| XM_011519029.1:c.1611+5G>A | XP_011517331.1:n.1611+5G>A | |
| XM_011519030.1:c.963+5G>A | XP_011517332.1:n.963+5G>A | |
| XM_011519031.1:c.750+5G>A | XP_011517333.1:n.750+5G>A | |
| XM_011519032.1:c.750+5G>A | XP_011517334.1:n.750+5G>A | |
| XM_011519033.1:c.3024+5G>A | XP_011517335.1:n.3024+5G>A | |
| NM_001354263.1:c.3159+5G>A | NP_001341192.1:n.3159+5G>A | |
| XM_005266105.5:c.3171+5G>A | XP_005266162.1:n.3171+5G>A | |
| XM_011519021.3:c.3189+5G>A | XP_011517323.1:n.3189+5G>A | |
| XM_011519022.3:c.3186+5G>A | XP_011517324.1:n.3186+5G>A | |
| XM_011519023.3:c.3168+5G>A | XP_011517325.1:n.3168+5G>A | |
| XM_011519029.3:c.1611+5G>A | XP_011517331.1:n.1611+5G>A | |
| XM_011519030.3:c.963+5G>A | XP_011517332.1:n.963+5G>A | |
| XM_017015134.1:c.3165+5G>A | XP_016870623.1:n.3165+5G>A | |
| XM_017015136.2:c.3081+5G>A | XP_016870625.1:n.3081+5G>A | |
| XM_017015137.1:c.3066+5G>A | XP_016870626.1:n.3066+5G>A | |
| XM_017015138.1:c.3066+5G>A | XP_016870627.1:n.3066+5G>A | |
| XM_024447674.1:c.3009+5G>A | XP_024303442.1:n.3009+5G>A | |
| XM_024447675.1:c.2943+5G>A | XP_024303443.1:n.2943+5G>A | |
| XM_024447676.1:c.2304+5G>A | XP_024303444.1:n.2304+5G>A | |
| XM_024447677.1:c.2304+5G>A | XP_024303445.1:n.2304+5G>A | |
| XM_024447680.1:c.2922+5G>A | XP_024303448.1:n.2922+5G>A | |
| NM_024757.5:c.3180+5G>A MANE Select | NP_079033.4:n.3180+5G>A | |
| NM_001354263.2:c.3159+5G>A | NP_001341192.1:n.3159+5G>A |