Linked Data
ClinVar Variation Id:
44107
dbSNP Id:
rs140442228
ExAC:
9:71863038 C / T
gnomAD v2:
9-71863038-C-T
gnomAD v3:
9-69248122-C-T
gnomAD v4:
9-69248122-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69248122C>T , CM000671.2:g.69248122C>T | GRCh38 |
| NC_000009.11:g.71863038C>T , CM000671.1:g.71863038C>T | GRCh37 |
| NC_000009.10:g.71052858C>T | NCBI36 |
| NG_016342.1:g.131815C>T | |
| NG_016342.2:g.152216C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348208.9:c.2778C>T | ENSP00000345893.4:p.Asp926= | |
| ENST00000377245.9:c.2778C>T MANE Select | ENSP00000366453.4:p.Asp926= | |
| ENST00000498204.2:n.2215C>T | ||
| ENST00000535702.6:c.2790C>T | ENSP00000442090.1:p.Asp930= | |
| ENST00000539225.2:c.2871C>T | ENSP00000438262.1:p.Asp957= | |
| ENST00000636247.1:n.2857C>T | ||
| ENST00000636438.1:c.2955C>T | ENSP00000489860.1:p.Asp985= | |
| ENST00000642889.1:c.3165C>T | ENSP00000493780.1:p.Asp1055= | |
| ENST00000643352.1:c.*2966C>T | ENSP00000496488.1:n.*2966C>T | |
| ENST00000645088.1:c.*3085C>T | ENSP00000495447.1:n.*3085C>T | |
| ENST00000648042.1:c.1376+1332C>T | ||
| ENST00000648087.1:n.4309C>T | ||
| ENST00000649114.1:c.2778C>T | ENSP00000497328.1:p.Asp926= | |
| ENST00000649134.1:c.2790C>T | ENSP00000498068.1:p.Asp930= | |
| ENST00000649783.1:n.2802C>T | ||
| ENST00000649927.1:n.323C>T | ||
| ENST00000649943.1:c.2778C>T | ENSP00000497539.1:p.Asp926= | |
| ENST00000650084.1:c.2781C>T | ENSP00000497861.1:p.Asp927= | |
| ENST00000650333.1:c.2709C>T | ENSP00000496791.1:p.Asp903= | |
| ENST00000650353.1:n.484C>T | ||
| ENST00000650460.1:c.1840-4693C>T | ||
| ENST00000650522.1:n.2301C>T | ||
| ENST00000265384.11:c.2778C>T | ENSP00000265384.7:p.Asp926= | |
| ENST00000348208.8:c.2778C>T | ENSP00000345893.4:p.Asp926= | |
| ENST00000377245.8:c.2778C>T | ENSP00000366453.4:p.Asp926= | |
| ENST00000453658.6:c.2709C>T | ENSP00000392178.2:p.Asp903= | |
| ENST00000535702.5:c.2790C>T | ENSP00000442090.1:p.Asp930= | |
| ENST00000539225.1:c.2871C>T | ENSP00000438262.1:p.Asp957= | |
| NM_001170414.2:c.2709C>T | NP_001163885.1:p.Asp903= | |
| NM_001170415.1:c.2790C>T | NP_001163886.1:p.Asp930= | |
| NM_001170416.1:c.2871C>T | NP_001163887.1:p.Asp957= | |
| NM_001170630.1:c.2778C>T | NP_001164101.1:p.Asp926= | |
| NM_004817.3:c.2778C>T | NP_004808.2:p.Asp926= | |
| NM_201629.3:c.2778C>T | NP_963923.1:p.Asp926= | |
| XM_005252314.1:c.2790C>T | XP_005252371.1:p.Asp930= | |
| XM_006717324.2:c.2772C>T | XP_006717387.1:p.Asp924= | |
| XM_011519204.1:c.2709C>T | XP_011517506.1:p.Asp903= | |
| XM_011519205.1:c.2709C>T | XP_011517507.1:p.Asp903= | |
| XM_011519206.1:c.2709C>T | XP_011517508.1:p.Asp903= | |
| XM_011519207.1:c.2709C>T | XP_011517509.1:p.Asp903= | |
| XM_011519208.1:c.2709C>T | XP_011517510.1:p.Asp903= | |
| XM_011519209.1:c.2709C>T | XP_011517511.1:p.Asp903= | |
| NM_004817.4:c.2778C>T MANE Select | NP_004808.2:p.Asp926= | |
| XM_005252314.2:c.2790C>T | XP_005252371.1:p.Asp930= | |
| XM_011519206.2:c.2709C>T | XP_011517508.1:p.Asp903= | |
| XM_011519207.2:c.2709C>T | XP_011517509.1:p.Asp903= | |
| XM_011519208.2:c.2709C>T | XP_011517510.1:p.Asp903= | |
| XM_011519209.2:c.2709C>T | XP_011517511.1:p.Asp903= | |
| XM_017015327.2:c.2778C>T | XP_016870816.1:p.Asp926= | |
| XM_017015328.1:c.2790C>T | XP_016870817.1:p.Asp930= | |
| NM_001170416.2:c.2871C>T | NP_001163887.1:p.Asp957= | |
| NM_001369870.1:c.2703C>T | NP_001356799.1:p.Asp901= | |
| NM_001369871.1:c.2709C>T | NP_001356800.1:p.Asp903= | |
| NM_001369872.1:c.2778C>T | NP_001356801.1:p.Asp926= | |
| NM_001369873.1:c.2667+1332C>T | NP_001356802.1:n.2667+1332C>T | |
| NM_001369874.1:c.2790C>T | NP_001356803.1:p.Asp930= | |
| NM_001369875.1:c.2790C>T | NP_001356804.1:p.Asp930= |