Linked Data
ClinVar Variation Id:
31552
ClinVar RCV Id:
RCV000024260
dbSNP Id:
rs398122861
PubMed:
PMID:21533187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112455948A>C , CM000674.2:g.112455948A>C | GRCh38 |
| NC_000012.11:g.112893752A>C , CM000674.1:g.112893752A>C | GRCh37 |
| NC_000012.10:g.111378135A>C | NCBI36 |
| NG_007459.1:g.42217A>C , LRG_614:g.42217A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000639857.2:c.643-2A>C | ENSP00000491593.2:n.643-2A>C | |
| ENST00000685487.1:c.643-2A>C | ENSP00000508503.1:n.643-2A>C | |
| ENST00000687906.1:c.642+1268A>C | ENSP00000509536.1:n.642+1268A>C | |
| ENST00000688597.1:c.643-2A>C | ENSP00000510628.1:n.643-2A>C | |
| ENST00000690210.1:c.643-2A>C | ENSP00000509272.1:n.643-2A>C | |
| ENST00000692624.1:c.643-2A>C | ENSP00000508953.1:n.643-2A>C | |
| ENST00000351677.7:c.643-2A>C MANE Select | ENSP00000340944.3:n.643-2A>C | |
| ENST00000351677.6:c.643-2A>C | ENSP00000340944.2:n.643-2A>C | |
| ENST00000392597.5:c.643-2A>C | ENSP00000376376.1:n.643-2A>C | |
| ENST00000530818.1:c.177-2A>C | ||
| ENST00000635625.1:c.643-2A>C | ENSP00000489597.1:n.643-2A>C | |
| NM_002834.3:c.643-2A>C , LRG_614t1:c.643-2A>C | NP_002825.3:n.643-2A>C | |
| NM_080601.1:c.643-2A>C | NP_542168.1:n.643-2A>C | |
| XM_006719526.1:c.643-2A>C | XP_006719589.1:n.643-2A>C | |
| XM_006719527.1:c.642+1268A>C | XP_006719590.1:n.642+1268A>C | |
| XM_011538613.1:c.640-2A>C | XP_011536915.1:n.640-2A>C | |
| NM_001330437.1:c.643-2A>C | NP_001317366.1:n.643-2A>C | |
| NM_002834.4:c.643-2A>C | NP_002825.3:n.643-2A>C | |
| NM_080601.2:c.643-2A>C | NP_542168.1:n.643-2A>C | |
| XM_011538613.2:c.640-2A>C | XP_011536915.1:n.640-2A>C | |
| XM_017019722.1:c.640-2A>C | XP_016875211.1:n.640-2A>C | |
| NM_001330437.2:c.643-2A>C | NP_001317366.1:n.643-2A>C | |
| NM_001374625.1:c.640-2A>C | NP_001361554.1:n.640-2A>C | |
| NM_002834.5:c.643-2A>C MANE Select | NP_002825.3:n.643-2A>C | |
| NM_080601.3:c.643-2A>C | NP_542168.1:n.643-2A>C |