Linked Data
ClinVar Variation Id:
179360
ClinVar RCV Id:
RCV000156149
dbSNP Id:
rs727504814
PubMed:
PMID:22032522
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.69616706T>G , CM000685.2:g.69616706T>G | GRCh38 |
| NC_000023.10:g.68836550T>G , CM000685.1:g.68836550T>G | GRCh37 |
| NC_000023.9:g.68753275T>G | NCBI36 |
| NG_009809.1:g.5640T>G | |
| NG_009809.2:g.5640T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.396+2T>G MANE Select | ENSP00000363680.4:n.396+2T>G | |
| ENST00000338901.4:c.398T>G | ENSP00000340611.4:p.Val133Gly | |
| ENST00000374548.5:n.638+2T>G | ||
| ENST00000374552.8:c.396+2T>G | ENSP00000363680.4:n.396+2T>G | |
| ENST00000374553.6:c.396+2T>G | ENSP00000363681.2:n.396+2T>G | |
| ENST00000502251.5:n.638+2T>G | ||
| ENST00000524573.5:c.396+2T>G | ENSP00000432585.1:n.396+2T>G | |
| ENST00000525810.5:c.396+2T>G | ENSP00000434195.1:n.396+2T>G | |
| ENST00000527388.5:c.396+2T>G | ENSP00000434861.1:n.396+2T>G | |
| ENST00000533317.5:n.638+2T>G | ||
| NM_001005609.1:c.396+2T>G | NP_001005609.1:n.396+2T>G | |
| NM_001005610.3:c.396+2T>G | NP_001005610.2:n.396+2T>G | |
| NM_001005612.2:c.396+2T>G | NP_001005612.2:n.396+2T>G | |
| NM_001005613.3:c.396+2T>G | NP_001005613.1:n.396+2T>G | |
| NM_001399.4:c.396+2T>G | NP_001390.1:n.396+2T>G | |
| XM_006724630.2:c.396+2T>G | XP_006724693.1:n.396+2T>G | |
| XM_011530885.1:c.396+2T>G | XP_011529187.1:n.396+2T>G | |
| XM_011530885.2:c.396+2T>G | XP_011529187.1:n.396+2T>G | |
| XM_017029336.1:c.396+2T>G | XP_016884825.1:n.396+2T>G | |
| XM_017029337.1:c.396+2T>G | XP_016884826.1:n.396+2T>G | |
| XR_001755660.1:n.619+2T>G | ||
| NM_001399.5:c.396+2T>G MANE Select | NP_001390.1:n.396+2T>G | |
| NM_001005609.2:c.396+2T>G | NP_001005609.1:n.396+2T>G | |
| NM_001005610.4:c.396+2T>G | NP_001005610.2:n.396+2T>G | |
| NM_001005612.3:c.396+2T>G | NP_001005612.2:n.396+2T>G | |
| NM_001005613.4:c.396+2T>G | NP_001005613.1:n.396+2T>G |