Linked Data
ClinVar Variation Id:
183375
ClinVar RCV Id:
RCV000172953
dbSNP Id:
rs793888515
PubMed:
PMID:25972376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49022152C>G , CM000674.2:g.49022152C>G | GRCh38 |
| NC_000012.11:g.49415935C>G , CM000674.1:g.49415935C>G | GRCh37 |
| NC_000012.10:g.47702202C>G | NCBI36 |
| NG_027827.1:g.38173G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526209.2:c.383-1G>C | ||
| ENST00000681974.1:n.1085-1G>C | ||
| ENST00000682693.1:n.2047-1G>C | ||
| ENST00000682886.1:n.819-1G>C | ||
| ENST00000683543.2:c.16461-1G>C | ENSP00000506726.1:n.16461-1G>C | |
| ENST00000683988.1:c.384-1G>C | ENSP00000506939.1:n.384-1G>C | |
| ENST00000684428.1:c.1006-1G>C | ENSP00000507433.1:n.1006-1G>C | |
| ENST00000685024.1:c.1567-1G>C | ||
| ENST00000685166.1:c.16422-1G>C | ENSP00000509386.1:n.16422-1G>C | |
| ENST00000691932.1:c.414-1G>C | ENSP00000509037.1:n.414-1G>C | |
| ENST00000692637.1:c.16410-1G>C | ENSP00000509666.1:n.16410-1G>C | |
| ENST00000301067.12:c.16413-1G>C MANE Select | ENSP00000301067.7:n.16413-1G>C | |
| ENST00000301067.11:c.16413-1G>C | ENSP00000301067.7:n.16413-1G>C | |
| ENST00000526209.1:c.456-1G>C | ENSP00000435714.1:n.456-1G>C | |
| NM_003482.3:c.16413-1G>C | NP_003473.3:n.16413-1G>C | |
| XM_005269162.3:c.16413-1G>C | XP_005269219.1:n.16413-1G>C | |
| XM_006719614.2:c.16422-1G>C | XP_006719677.1:n.16422-1G>C | |
| XM_006719616.2:c.16410-1G>C | XP_006719679.1:n.16410-1G>C | |
| XM_011538770.1:c.16470-1G>C | XP_011537072.1:n.16470-1G>C | |
| XM_011538771.1:c.16467-1G>C | XP_011537073.1:n.16467-1G>C | |
| XM_011538772.1:c.16461-1G>C | XP_011537074.1:n.16461-1G>C | |
| XM_011538773.1:c.16458-1G>C | XP_011537075.1:n.16458-1G>C | |
| XM_011538774.1:c.16449-1G>C | XP_011537076.1:n.16449-1G>C | |
| XM_011538775.1:c.16404-1G>C | XP_011537077.1:n.16404-1G>C | |
| XM_011538776.1:c.16377-1G>C | XP_011537078.1:n.16377-1G>C | |
| XM_005269162.4:c.16413-1G>C | XP_005269219.1:n.16413-1G>C | |
| XM_006719614.4:c.16422-1G>C | XP_006719677.1:n.16422-1G>C | |
| XM_006719616.3:c.16410-1G>C | XP_006719679.1:n.16410-1G>C | |
| XM_011538770.2:c.16470-1G>C | XP_011537072.1:n.16470-1G>C | |
| XM_011538771.2:c.16467-1G>C | XP_011537073.1:n.16467-1G>C | |
| XM_011538772.2:c.16461-1G>C | XP_011537074.1:n.16461-1G>C | |
| XM_011538773.2:c.16458-1G>C | XP_011537075.1:n.16458-1G>C | |
| XM_011538774.2:c.16449-1G>C | XP_011537076.1:n.16449-1G>C | |
| XM_011538776.2:c.16377-1G>C | XP_011537078.1:n.16377-1G>C | |
| XR_001748874.1:n.16590-1G>C | ||
| NM_003482.4:c.16413-1G>C MANE Select | NP_003473.3:n.16413-1G>C |