Linked Data
ClinVar Variation Id:
627226
ClinVar RCV Id:
RCV000852014
dbSNP Id:
rs375998777
ExAC:
4:187206787 C / T
gnomAD v2:
4-187206787-C-T
gnomAD v3:
4-186285633-C-T
gnomAD v4:
4-186285633-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186285633C>T , CM000666.2:g.186285633C>T | GRCh38 |
| NC_000004.11:g.187206787C>T , CM000666.1:g.187206787C>T | GRCh37 |
| NC_000004.10:g.187443781C>T | NCBI36 |
| NG_008051.1:g.24670C>T , LRG_583:g.24670C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1305-5C>T MANE Select | ENSP00000384957.2:n.1305-5C>T | |
| ENST00000264692.8:c.1143-5C>T | ENSP00000264692.5:n.1143-5C>T | |
| ENST00000403665.6:c.1305-5C>T | ENSP00000384957.2:n.1305-5C>T | |
| NM_000128.3:c.1305-5C>T , LRG_583t1:c.1305-5C>T | NP_000119.1:n.1305-5C>T | |
| XM_005262821.2:c.1308-5C>T | XP_005262878.1:n.1308-5C>T | |
| XM_005262822.2:c.1308-5C>T | XP_005262879.1:n.1308-5C>T | |
| XM_005262823.2:c.1038-5C>T | XP_005262880.1:n.1038-5C>T | |
| XM_005262824.1:c.1308-5C>T | XP_005262881.1:n.1308-5C>T | |
| XM_006714137.1:c.1260-5C>T | XP_006714200.1:n.1260-5C>T | |
| XR_938706.1:n.1713-5C>T | ||
| XR_938707.1:n.1713-5C>T | ||
| XM_005262821.4:c.1308-5C>T | XP_005262878.1:n.1308-5C>T | |
| XM_005262822.4:c.1308-5C>T | XP_005262879.1:n.1308-5C>T | |
| XM_005262823.4:c.1038-5C>T | XP_005262880.1:n.1038-5C>T | |
| XM_006714137.3:c.1260-5C>T | XP_006714200.1:n.1260-5C>T | |
| XR_001741172.2:n.1779-5C>T | ||
| NM_000128.4:c.1305-5C>T MANE Select | NP_000119.1:n.1305-5C>T |