Linked Data
ClinVar Variation Id:
45109
dbSNP Id:
rs143965233
ExAC:
9:71865943 C / T
gnomAD v2:
9-71865943-C-T
gnomAD v3:
9-69251027-C-T
gnomAD v4:
9-69251027-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69251027C>T , CM000671.2:g.69251027C>T | GRCh38 |
| NC_000009.11:g.71865943C>T , CM000671.1:g.71865943C>T | GRCh37 |
| NC_000009.10:g.71055763C>T | NCBI36 |
| NG_016342.1:g.134720C>T | |
| NG_016342.2:g.155121C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348208.9:c.2881-1788C>T | ENSP00000345893.4:n.2881-1788C>T | |
| ENST00000377245.9:c.2992-8C>T MANE Select | ENSP00000366453.4:n.2992-8C>T | |
| ENST00000498204.2:n.2318-1788C>T | ||
| ENST00000535702.6:c.2893-8C>T | ENSP00000442090.1:n.2893-8C>T | |
| ENST00000539225.2:c.3085-8C>T | ENSP00000438262.1:n.3085-8C>T | |
| ENST00000636438.1:c.3169-8C>T | ENSP00000489860.1:n.3169-8C>T | |
| ENST00000642889.1:c.3379-8C>T | ENSP00000493780.1:n.3379-8C>T | |
| ENST00000645088.1:c.*3188-8C>T | ENSP00000495447.1:n.*3188-8C>T | |
| ENST00000648042.1:c.1377-8C>T | ||
| ENST00000649114.1:c.2881-1788C>T | ENSP00000497328.1:n.2881-1788C>T | |
| ENST00000649134.1:c.2893-1788C>T | ENSP00000498068.1:n.2893-1788C>T | |
| ENST00000649783.1:n.2905-8C>T | ||
| ENST00000649927.1:n.537-8C>T | ||
| ENST00000649943.1:c.2881-8C>T | ENSP00000497539.1:n.2881-8C>T | |
| ENST00000650084.1:c.2995-8C>T | ENSP00000497861.1:n.2995-8C>T | |
| ENST00000650333.1:c.2923-8C>T | ENSP00000496791.1:n.2923-8C>T | |
| ENST00000650353.1:n.587-8C>T | ||
| ENST00000650460.1:c.1840-1788C>T | ||
| ENST00000650522.1:n.2404-8C>T | ||
| ENST00000348208.8:c.2881-1788C>T | ENSP00000345893.4:n.2881-1788C>T | |
| ENST00000377245.8:c.2992-8C>T | ENSP00000366453.4:n.2992-8C>T | |
| ENST00000453658.6:c.2812-1788C>T | ENSP00000392178.2:n.2812-1788C>T | |
| ENST00000535702.5:c.2893-8C>T | ENSP00000442090.1:n.2893-8C>T | |
| ENST00000539225.1:c.3085-8C>T | ENSP00000438262.1:n.3085-8C>T | |
| NM_001170414.2:c.2812-1788C>T | NP_001163885.1:n.2812-1788C>T | |
| NM_001170415.1:c.2893-8C>T | NP_001163886.1:n.2893-8C>T | |
| NM_001170416.1:c.3085-8C>T | NP_001163887.1:n.3085-8C>T | |
| NM_004817.3:c.2992-8C>T | NP_004808.2:n.2992-8C>T | |
| NM_201629.3:c.2881-1788C>T | NP_963923.1:n.2881-1788C>T | |
| XM_005252314.1:c.3004-8C>T | XP_005252371.1:n.3004-8C>T | |
| XM_006717324.2:c.2986-8C>T | XP_006717387.1:n.2986-8C>T | |
| XM_011519204.1:c.2812-8C>T | XP_011517506.1:n.2812-8C>T | |
| XM_011519205.1:c.2923-8C>T | XP_011517507.1:n.2923-8C>T | |
| XM_011519206.1:c.2923-8C>T | XP_011517508.1:n.2923-8C>T | |
| XM_011519207.1:c.2923-8C>T | XP_011517509.1:n.2923-8C>T | |
| XM_011519208.1:c.2923-8C>T | XP_011517510.1:n.2923-8C>T | |
| XM_011519209.1:c.2923-8C>T | XP_011517511.1:n.2923-8C>T | |
| NM_004817.4:c.2992-8C>T MANE Select | NP_004808.2:n.2992-8C>T | |
| XM_005252314.2:c.3004-8C>T | XP_005252371.1:n.3004-8C>T | |
| XM_011519206.2:c.2923-8C>T | XP_011517508.1:n.2923-8C>T | |
| XM_011519207.2:c.2923-8C>T | XP_011517509.1:n.2923-8C>T | |
| XM_011519208.2:c.2923-8C>T | XP_011517510.1:n.2923-8C>T | |
| XM_011519209.2:c.2923-8C>T | XP_011517511.1:n.2923-8C>T | |
| XM_017015327.2:c.2881-8C>T | XP_016870816.1:n.2881-8C>T | |
| XM_017015328.1:c.2893-1788C>T | XP_016870817.1:n.2893-1788C>T | |
| NM_001170416.2:c.3085-8C>T | NP_001163887.1:n.3085-8C>T | |
| NM_001369870.1:c.2917-8C>T | NP_001356799.1:n.2917-8C>T | |
| NM_001369871.1:c.2923-8C>T | NP_001356800.1:n.2923-8C>T | |
| NM_001369872.1:c.2881-8C>T | NP_001356801.1:n.2881-8C>T | |
| NM_001369873.1:c.2668-8C>T | NP_001356802.1:n.2668-8C>T | |
| NM_001369874.1:c.2893-1788C>T | NP_001356803.1:n.2893-1788C>T | |
| NM_001369875.1:c.3004-8C>T | NP_001356804.1:n.3004-8C>T |