Linked Data
ClinVar Variation Id:
161831
ClinVar RCV Id:
RCV000149367
dbSNP Id:
rs193921018
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.37014707A>C , CM000668.2:g.37014707A>C | GRCh38 |
| NC_000006.11:g.36982483A>C , CM000668.1:g.36982483A>C | GRCh37 |
| NC_000006.10:g.37090461A>C | NCBI36 |
| NG_051804.1:g.14061A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274963.13:c.882+3A>C MANE Select | ENSP00000274963.8:n.882+3A>C | |
| ENST00000274963.12:c.882+3A>C | ENSP00000274963.8:n.882+3A>C | |
| ENST00000373535.6:c.*346+3A>C | ENSP00000362635.2:n.*346+3A>C | |
| ENST00000464083.5:n.1262+3A>C | ||
| ENST00000470273.5:n.926+3A>C | ||
| ENST00000493635.1:n.913+3A>C | ||
| ENST00000494343.5:n.939+3A>C | ||
| NM_173558.3:c.882+3A>C | NP_775829.2:n.882+3A>C | |
| XM_005248911.2:c.882+3A>C | XP_005248968.1:n.882+3A>C | |
| XM_005248912.2:c.282+3A>C | XP_005248969.1:n.282+3A>C | |
| XM_005248913.2:c.282+3A>C | XP_005248970.1:n.282+3A>C | |
| XM_005248914.2:c.48+3A>C | XP_005248971.1:n.48+3A>C | |
| XM_006715016.2:c.381+3A>C | XP_006715079.1:n.381+3A>C | |
| XM_011514371.1:c.282+3A>C | XP_011512673.1:n.282+3A>C | |
| XM_011514372.1:c.882+3A>C | XP_011512674.1:n.882+3A>C | |
| XM_011514373.1:c.882+3A>C | XP_011512675.1:n.882+3A>C | |
| XR_926106.1:n.1045+3A>C | ||
| XM_011514372.2:c.882+3A>C | XP_011512674.1:n.882+3A>C | |
| XM_011514373.2:c.882+3A>C | XP_011512675.1:n.882+3A>C | |
| XM_017010429.2:c.882+3A>C | XP_016865918.1:n.882+3A>C | |
| XR_001743240.2:n.1045+3A>C | ||
| XR_001743241.2:n.1045+3A>C | ||
| XR_001743242.2:n.1045+3A>C | ||
| XR_001743243.1:n.1045+3A>C | ||
| XR_001743244.2:n.877+3A>C | ||
| XR_001743245.2:n.934+3A>C | ||
| XR_001743246.2:n.149+3A>C | ||
| XR_001743247.2:n.200+3A>C | ||
| XR_001743248.1:n.1045+3A>C | ||
| XR_001743249.2:n.194+3A>C | ||
| NM_173558.4:c.882+3A>C MANE Select | NP_775829.2:n.882+3A>C |