Linked Data
ClinVar Variation Id:
435926
dbSNP Id:
rs145760682
ExAC:
3:47042761 C / T
gnomAD v2:
3-47042761-C-T
gnomAD v3:
3-47001271-C-T
gnomAD v4:
3-47001271-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47001271C>T , CM000665.2:g.47001271C>T | GRCh38 |
| NC_000003.11:g.47042761C>T , CM000665.1:g.47042761C>T | GRCh37 |
| NC_000003.10:g.47017765C>T | NCBI36 |
| NG_031914.1:g.26589C>T , LRG_568:g.26589C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.4485-8C>T MANE Select | ENSP00000415034.2:n.4485-8C>T | |
| ENST00000651747.1:c.4383-8C>T | ENSP00000499216.1:n.4383-8C>T | |
| ENST00000416683.5:c.2348-8C>T | ||
| ENST00000450053.7:c.4485-8C>T | ENSP00000415034.2:n.4485-8C>T | |
| ENST00000475689.1:n.322C>T | ||
| NM_015175.2:c.4485-8C>T , LRG_568t1:c.4485-8C>T | NP_055990.1:n.4485-8C>T | |
| XM_005264992.2:c.4383-8C>T | XP_005265049.1:n.4383-8C>T | |
| XM_005264993.2:c.957-8C>T | XP_005265050.1:n.957-8C>T | |
| XM_006713072.2:c.4404-8C>T | XP_006713135.1:n.4404-8C>T | |
| XM_011533532.1:c.4464-8C>T | XP_011531834.1:n.4464-8C>T | |
| XM_011533533.1:c.4485-8C>T | XP_011531835.1:n.4485-8C>T | |
| XM_011533534.1:c.4116-8C>T | XP_011531836.1:n.4116-8C>T | |
| XM_011533535.1:c.3945-8C>T | XP_011531837.1:n.3945-8C>T | |
| XM_011533536.1:c.3831-8C>T | XP_011531838.1:n.3831-8C>T | |
| XM_011533537.1:c.3393-8C>T | XP_011531839.1:n.3393-8C>T | |
| XR_940397.1:n.4661-8C>T | ||
| XR_940398.1:n.4661-8C>T | ||
| NM_001365116.1:c.4383-8C>T | NP_001352045.1:n.4383-8C>T | |
| XM_006713072.3:c.4404-8C>T | XP_006713135.1:n.4404-8C>T | |
| XM_011533533.2:c.4485-8C>T | XP_011531835.1:n.4485-8C>T | |
| XM_017006010.1:c.4485-8C>T | XP_016861499.1:n.4485-8C>T | |
| XM_017006011.1:c.4464-8C>T | XP_016861500.1:n.4464-8C>T | |
| XM_017006012.1:c.4404-8C>T | XP_016861501.1:n.4404-8C>T | |
| XM_017006013.1:c.4485-8C>T | XP_016861502.1:n.4485-8C>T | |
| XM_017006014.1:c.4383-8C>T | XP_016861503.1:n.4383-8C>T | |
| XM_017006015.1:c.4116-8C>T | XP_016861504.1:n.4116-8C>T | |
| XM_017006016.1:c.3945-8C>T | XP_016861505.1:n.3945-8C>T | |
| XM_017006017.1:c.957-8C>T | XP_016861506.1:n.957-8C>T | |
| XR_940397.2:n.4661-8C>T | ||
| NM_001365116.2:c.4383-8C>T | NP_001352045.1:n.4383-8C>T | |
| NM_015175.3:c.4485-8C>T MANE Select | NP_055990.1:n.4485-8C>T |