Linked Data
ClinVar Variation Id:
88731
ClinVar RCV Id:
RCV000074390
dbSNP Id:
rs397518469
PubMed:
PMID:23933820
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9849963T>C , CM000678.2:g.9849963T>C | GRCh38 |
| NC_000016.9:g.9943820T>C , CM000678.1:g.9943820T>C | GRCh37 |
| NC_000016.8:g.9851321T>C | NCBI36 |
| NG_011812.1:g.337792A>G | |
| NG_011812.2:g.337792A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330684.4:c.1123-2A>G MANE Select | ENSP00000332549.3:n.1123-2A>G | |
| ENST00000535259.6:c.652-2A>G | ENSP00000441572.3:n.652-2A>G | |
| ENST00000636273.2:n.716-2A>G | ||
| ENST00000674742.1:c.652-2A>G | ENSP00000502200.1:n.652-2A>G | |
| ENST00000675189.1:n.1607-2A>G | ||
| ENST00000675398.1:c.1123-2A>G | ENSP00000502752.1:n.1123-2A>G | |
| ENST00000330684.3:c.1123-2A>G | ENSP00000332549.3:n.1123-2A>G | |
| ENST00000396573.6:c.1123-2A>G | ENSP00000379818.2:n.1123-2A>G | |
| ENST00000396575.6:c.712-2A>G | ENSP00000379820.3:n.712-2A>G | |
| ENST00000461292.3:n.762-2A>G | ||
| ENST00000535259.5:c.712-2A>G | ENSP00000441572.2:n.712-2A>G | |
| ENST00000562109.5:c.1123-2A>G | ENSP00000454998.1:n.1123-2A>G | |
| ENST00000566683.1:n.356-2A>G | ||
| NM_000833.4:c.1123-2A>G | NP_000824.1:n.1123-2A>G | |
| NM_001134407.2:c.1123-2A>G | NP_001127879.1:n.1123-2A>G | |
| NM_001134408.2:c.1123-2A>G | NP_001127880.1:n.1123-2A>G | |
| XM_011522456.1:c.964-2A>G | XP_011520758.1:n.964-2A>G | |
| XM_011522457.1:c.865-2A>G | XP_011520759.1:n.865-2A>G | |
| XM_011522458.1:c.652-2A>G | XP_011520760.1:n.652-2A>G | |
| XM_011522459.1:c.652-2A>G | XP_011520761.1:n.652-2A>G | |
| XM_011522460.1:c.652-2A>G | XP_011520762.1:n.652-2A>G | |
| XM_011522461.1:c.1123-2A>G | XP_011520763.1:n.1123-2A>G | |
| XM_011522458.3:c.652-2A>G | XP_011520760.1:n.652-2A>G | |
| XM_011522461.3:c.1123-2A>G | XP_011520763.1:n.1123-2A>G | |
| XM_017023172.1:c.1279-2A>G | XP_016878661.1:n.1279-2A>G | |
| XM_017023173.1:c.1279-2A>G | XP_016878662.1:n.1279-2A>G | |
| NM_001134407.3:c.1123-2A>G MANE Select | NP_001127879.1:n.1123-2A>G | |
| NM_000833.5:c.1123-2A>G | NP_000824.1:n.1123-2A>G |