Linked Data
ClinVar Variation Id:
216345
ClinVar RCV Id:
RCV000236903
RCV000410446
RCV000590535
RCV000771124
RCV001080259
RCV003491944
RCV003997015
dbSNP Id:
rs267608003
ExAC:
2:47705405 C / A
gnomAD v2:
2-47705405-C-A
gnomAD v3:
2-47478266-C-A
gnomAD v4:
2-47478266-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47478266C>A , CM000664.2:g.47478266C>A | GRCh38 |
| NC_000002.11:g.47705405C>A , CM000664.1:g.47705405C>A | GRCh37 |
| NC_000002.10:g.47558909C>A | NCBI36 |
| NG_007110.2:g.80143C>A , LRG_218:g.80143C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2211-6C>A | ENSP00000495641.2:n.2211-6C>A | |
| ENST00000233146.7:c.2211-6C>A MANE Select | ENSP00000233146.2:n.2211-6C>A | |
| ENST00000543555.6:c.2013-6C>A | ENSP00000442697.1:n.2013-6C>A | |
| ENST00000644092.1:c.*511-6C>A | ENSP00000496351.1:n.*511-6C>A | |
| ENST00000644900.1:c.64-6C>A | ||
| ENST00000645339.1:c.2211-6C>A | ENSP00000496441.1:n.2211-6C>A | |
| ENST00000645506.1:c.2211-6C>A | ENSP00000495455.1:n.2211-6C>A | |
| ENST00000646415.1:c.2211-6C>A | ENSP00000495543.1:n.2211-6C>A | |
| ENST00000233146.6:c.2211-6C>A | ENSP00000233146.2:n.2211-6C>A | |
| ENST00000406134.5:c.2211-6C>A | ENSP00000384199.1:n.2211-6C>A | |
| ENST00000543555.5:c.2013-6C>A | ENSP00000442697.1:n.2013-6C>A | |
| ENST00000610696.4:c.*607-6C>A | ENSP00000483159.1:n.*607-6C>A | |
| ENST00000613514.4:c.*751-6C>A | ENSP00000484137.1:n.*751-6C>A | |
| ENST00000617333.3:c.*977-6C>A | ENSP00000482468.1:n.*977-6C>A | |
| ENST00000617938.4:c.*1183-6C>A | ENSP00000481158.1:n.*1183-6C>A | |
| ENST00000621359.2:c.2211-6C>A | ENSP00000481416.1:n.2211-6C>A | |
| NM_000251.2:c.2211-6C>A , LRG_218t1:c.2211-6C>A | NP_000242.1:n.2211-6C>A | |
| NM_001258281.1:c.2013-6C>A | NP_001245210.1:n.2013-6C>A | |
| XM_005264332.2:c.2211-6C>A | XP_005264389.2:n.2211-6C>A | |
| XM_011532867.1:c.2211-6C>A | XP_011531169.1:n.2211-6C>A | |
| XR_939685.1:n.2283-6C>A | ||
| XM_005264332.4:c.2211-6C>A | XP_005264389.2:n.2211-6C>A | |
| XM_011532867.2:c.2211-6C>A | XP_011531169.1:n.2211-6C>A | |
| XR_001738747.2:n.2273-6C>A | ||
| XR_939685.2:n.2273-6C>A | ||
| NM_000251.3:c.2211-6C>A MANE Select | NP_000242.1:n.2211-6C>A |