Linked Data
ClinVar Variation Id:
435042
dbSNP Id:
rs765227211
ExAC:
9:140710523 C / G
gnomAD v2:
9-140710523-C-G
gnomAD v4:
9-137816071-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137816071C>G , CM000671.2:g.137816071C>G | GRCh38 |
| NC_000009.11:g.140710523C>G , CM000671.1:g.140710523C>G | GRCh37 |
| NC_000009.10:g.139830344C>G | NCBI36 |
| NG_011776.1:g.202080C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3374+9C>G MANE Select | ENSP00000417980.1:n.3374+9C>G | |
| ENST00000635741.1:n.63+9C>G | ||
| ENST00000637161.1:c.3281+9C>G | ENSP00000490328.1:n.3281+9C>G | |
| ENST00000637261.1:c.3414+9C>G | ENSP00000490815.1:n.3414+9C>G | |
| ENST00000637748.1:n.311+9C>G | ||
| ENST00000637891.1:c.1448+9C>G | ENSP00000490907.1:n.1448+9C>G | |
| ENST00000460843.5:c.3374+9C>G | ENSP00000417980.1:n.3374+9C>G | |
| ENST00000462942.3:c.2231+9C>G | ENSP00000436107.1:n.2231+9C>G | |
| ENST00000494249.5:n.727+9C>G | ||
| NM_024757.4:c.3374+9C>G | NP_079033.4:n.3374+9C>G | |
| XM_005266105.3:c.3365+9C>G | XP_005266162.1:n.3365+9C>G | |
| XM_005266110.1:c.3281+9C>G | XP_005266167.1:n.3281+9C>G | |
| XM_006717288.2:c.3356+9C>G | XP_006717351.1:n.3356+9C>G | |
| XM_011519021.1:c.3383+9C>G | XP_011517323.1:n.3383+9C>G | |
| XM_011519022.1:c.3380+9C>G | XP_011517324.1:n.3380+9C>G | |
| XM_011519023.1:c.3362+9C>G | XP_011517325.1:n.3362+9C>G | |
| XM_011519024.1:c.3305+9C>G | XP_011517326.1:n.3305+9C>G | |
| XM_011519025.1:c.3281+9C>G | XP_011517327.1:n.3281+9C>G | |
| XM_011519026.1:c.3239+9C>G | XP_011517328.1:n.3239+9C>G | |
| XM_011519029.1:c.1805+9C>G | XP_011517331.1:n.1805+9C>G | |
| XM_011519030.1:c.1157+9C>G | XP_011517332.1:n.1157+9C>G | |
| XM_011519031.1:c.944+9C>G | XP_011517333.1:n.944+9C>G | |
| XM_011519032.1:c.944+9C>G | XP_011517334.1:n.944+9C>G | |
| XM_011519033.1:c.3218+9C>G | XP_011517335.1:n.3218+9C>G | |
| XR_930459.1:n.5297-1509G>C | ||
| NM_001354263.1:c.3353+9C>G | NP_001341192.1:n.3353+9C>G | |
| XM_005266105.5:c.3365+9C>G | XP_005266162.1:n.3365+9C>G | |
| XM_011519021.3:c.3383+9C>G | XP_011517323.1:n.3383+9C>G | |
| XM_011519022.3:c.3380+9C>G | XP_011517324.1:n.3380+9C>G | |
| XM_011519023.3:c.3362+9C>G | XP_011517325.1:n.3362+9C>G | |
| XM_011519029.3:c.1805+9C>G | XP_011517331.1:n.1805+9C>G | |
| XM_011519030.3:c.1157+9C>G | XP_011517332.1:n.1157+9C>G | |
| XM_017015134.1:c.3359+9C>G | XP_016870623.1:n.3359+9C>G | |
| XM_017015136.2:c.3275+9C>G | XP_016870625.1:n.3275+9C>G | |
| XM_017015137.1:c.3260+9C>G | XP_016870626.1:n.3260+9C>G | |
| XM_017015138.1:c.3260+9C>G | XP_016870627.1:n.3260+9C>G | |
| XM_024447674.1:c.3203+9C>G | XP_024303442.1:n.3203+9C>G | |
| XM_024447675.1:c.3137+9C>G | XP_024303443.1:n.3137+9C>G | |
| XM_024447676.1:c.2498+9C>G | XP_024303444.1:n.2498+9C>G | |
| XM_024447677.1:c.2498+9C>G | XP_024303445.1:n.2498+9C>G | |
| XM_024447680.1:c.3116+9C>G | XP_024303448.1:n.3116+9C>G | |
| NM_024757.5:c.3374+9C>G MANE Select | NP_079033.4:n.3374+9C>G | |
| NM_001354263.2:c.3353+9C>G | NP_001341192.1:n.3353+9C>G |