Linked Data
dbSNP Id:
rs747622461
gnomAD v2:
9-140707732-C-T
gnomAD v3:
9-137813280-C-T
gnomAD v4:
9-137813280-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137813280C>T , CM000671.2:g.137813280C>T | GRCh38 |
| NC_000009.11:g.140707732C>T , CM000671.1:g.140707732C>T | GRCh37 |
| NC_000009.10:g.139827553C>T | NCBI36 |
| NG_011776.1:g.199289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3036-106C>T MANE Select | ENSP00000417980.1:n.3036-106C>T | |
| ENST00000636027.1:c.2922-106C>T | ENSP00000489961.1:n.2922-106C>T | |
| ENST00000637161.1:c.2943-106C>T | ENSP00000490328.1:n.2943-106C>T | |
| ENST00000637261.1:c.3076-106C>T | ENSP00000490815.1:n.3076-106C>T | |
| ENST00000637891.1:c.930-106C>T | ENSP00000490907.1:n.930-106C>T | |
| ENST00000460843.5:c.3036-106C>T | ENSP00000417980.1:n.3036-106C>T | |
| ENST00000462942.3:c.1893-106C>T | ENSP00000436107.1:n.1893-106C>T | |
| ENST00000486164.5:c.723-106C>T | ||
| ENST00000488242.2:n.562-106C>T | ||
| NM_024757.4:c.3036-106C>T | NP_079033.4:n.3036-106C>T | |
| XM_005266105.3:c.3027-106C>T | XP_005266162.1:n.3027-106C>T | |
| XM_005266110.1:c.2943-106C>T | XP_005266167.1:n.2943-106C>T | |
| XM_006717288.2:c.3018-106C>T | XP_006717351.1:n.3018-106C>T | |
| XM_011519021.1:c.3045-106C>T | XP_011517323.1:n.3045-106C>T | |
| XM_011519022.1:c.3042-106C>T | XP_011517324.1:n.3042-106C>T | |
| XM_011519023.1:c.3024-106C>T | XP_011517325.1:n.3024-106C>T | |
| XM_011519024.1:c.2967-106C>T | XP_011517326.1:n.2967-106C>T | |
| XM_011519025.1:c.2943-106C>T | XP_011517327.1:n.2943-106C>T | |
| XM_011519026.1:c.2901-106C>T | XP_011517328.1:n.2901-106C>T | |
| XM_011519029.1:c.1467-106C>T | XP_011517331.1:n.1467-106C>T | |
| XM_011519030.1:c.819-106C>T | XP_011517332.1:n.819-106C>T | |
| XM_011519031.1:c.606-106C>T | XP_011517333.1:n.606-106C>T | |
| XM_011519032.1:c.606-106C>T | XP_011517334.1:n.606-106C>T | |
| XM_011519033.1:c.2880-106C>T | XP_011517335.1:n.2880-106C>T | |
| NM_001354263.1:c.3015-106C>T | NP_001341192.1:n.3015-106C>T | |
| XM_005266105.5:c.3027-106C>T | XP_005266162.1:n.3027-106C>T | |
| XM_011519021.3:c.3045-106C>T | XP_011517323.1:n.3045-106C>T | |
| XM_011519022.3:c.3042-106C>T | XP_011517324.1:n.3042-106C>T | |
| XM_011519023.3:c.3024-106C>T | XP_011517325.1:n.3024-106C>T | |
| XM_011519029.3:c.1467-106C>T | XP_011517331.1:n.1467-106C>T | |
| XM_011519030.3:c.819-106C>T | XP_011517332.1:n.819-106C>T | |
| XM_017015134.1:c.3021-106C>T | XP_016870623.1:n.3021-106C>T | |
| XM_017015136.2:c.2937-106C>T | XP_016870625.1:n.2937-106C>T | |
| XM_017015137.1:c.2922-106C>T | XP_016870626.1:n.2922-106C>T | |
| XM_017015138.1:c.2922-106C>T | XP_016870627.1:n.2922-106C>T | |
| XM_024447674.1:c.2865-106C>T | XP_024303442.1:n.2865-106C>T | |
| XM_024447675.1:c.2799-106C>T | XP_024303443.1:n.2799-106C>T | |
| XM_024447676.1:c.2160-106C>T | XP_024303444.1:n.2160-106C>T | |
| XM_024447677.1:c.2160-106C>T | XP_024303445.1:n.2160-106C>T | |
| XM_024447680.1:c.2778-106C>T | XP_024303448.1:n.2778-106C>T | |
| NM_024757.5:c.3036-106C>T MANE Select | NP_079033.4:n.3036-106C>T | |
| NM_001354263.2:c.3015-106C>T | NP_001341192.1:n.3015-106C>T |