Linked Data
ClinVar Variation Id:
40542
ClinVar RCV Id:
RCV000033525
RCV000037605
RCV000157023
RCV000390906
RCV000341657
RCV001813254
RCV001811233
RCV003315541
dbSNP Id:
rs12301915
ExAC:
12:112919869 C / A
gnomAD v2:
12-112919869-C-A
gnomAD v3:
12-112482065-C-A
gnomAD v4:
12-112482065-C-A
PubMed:
PMID:11992261
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112482065C>A , CM000674.2:g.112482065C>A | GRCh38 |
| NC_000012.11:g.112919869C>A , CM000674.1:g.112919869C>A | GRCh37 |
| NC_000012.10:g.111404252C>A | NCBI36 |
| NG_007459.1:g.68334C>A , LRG_614:g.68334C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1093-9C>A | ENSP00000491593.2:n.1093-9C>A | |
| ENST00000685487.1:c.1093-9C>A | ENSP00000508503.1:n.1093-9C>A | |
| ENST00000687906.1:c.979-9C>A | ENSP00000509536.1:n.979-9C>A | |
| ENST00000688597.1:c.1093-9C>A | ENSP00000510628.1:n.1093-9C>A | |
| ENST00000690210.1:c.1093-9C>A | ENSP00000509272.1:n.1093-9C>A | |
| ENST00000690472.1:n.302-9C>A | ||
| ENST00000692624.1:c.1093-9C>A | ENSP00000508953.1:n.1093-9C>A | |
| ENST00000351677.7:c.1093-9C>A MANE Select | ENSP00000340944.3:n.1093-9C>A | |
| ENST00000351677.6:c.1093-9C>A | ENSP00000340944.2:n.1093-9C>A | |
| ENST00000392597.5:c.1093-9C>A | ENSP00000376376.1:n.1093-9C>A | |
| ENST00000635625.1:c.1093-9C>A | ENSP00000489597.1:n.1093-9C>A | |
| ENST00000635652.1:c.85-9C>A | ENSP00000489541.1:n.85-9C>A | |
| NM_002834.3:c.1093-9C>A , LRG_614t1:c.1093-9C>A | NP_002825.3:n.1093-9C>A | |
| NM_080601.1:c.1093-9C>A | NP_542168.1:n.1093-9C>A | |
| XM_006719526.1:c.1093-9C>A | XP_006719589.1:n.1093-9C>A | |
| XM_006719527.1:c.979-9C>A | XP_006719590.1:n.979-9C>A | |
| XM_011538613.1:c.1090-9C>A | XP_011536915.1:n.1090-9C>A | |
| NM_001330437.1:c.1093-9C>A | NP_001317366.1:n.1093-9C>A | |
| NM_002834.4:c.1093-9C>A | NP_002825.3:n.1093-9C>A | |
| NM_080601.2:c.1093-9C>A | NP_542168.1:n.1093-9C>A | |
| XM_011538613.2:c.1090-9C>A | XP_011536915.1:n.1090-9C>A | |
| XM_017019722.1:c.1090-9C>A | XP_016875211.1:n.1090-9C>A | |
| NM_001330437.2:c.1093-9C>A | NP_001317366.1:n.1093-9C>A | |
| NM_001374625.1:c.1090-9C>A | NP_001361554.1:n.1090-9C>A | |
| NM_002834.5:c.1093-9C>A MANE Select | NP_002825.3:n.1093-9C>A | |
| NM_080601.3:c.1093-9C>A | NP_542168.1:n.1093-9C>A |