Linked Data
ClinVar Variation Id:
371612
ClinVar RCV Id:
RCV000410275
dbSNP Id:
rs1057517410
gnomAD v4:
19-12896908-A-G
PubMed:
PMID:27629047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896908A>G , CM000681.2:g.12896908A>G | GRCh38 |
| NC_000019.9:g.13007722A>G , CM000681.1:g.13007722A>G | GRCh37 |
| NC_000019.8:g.12868722A>G | NCBI36 |
| NG_009292.1:g.10749A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.853-2A>G MANE Select | ENSP00000222214.4:n.853-2A>G | |
| ENST00000222214.9:c.853-2A>G | ENSP00000222214.4:n.853-2A>G | |
| ENST00000421816.6:n.831-2A>G | ||
| ENST00000585420.5:n.1183-2A>G | ||
| ENST00000590530.5:c.*293-2A>G | ENSP00000468452.1:n.*293-2A>G | |
| ENST00000591043.1:n.889-2A>G | ||
| ENST00000591470.5:c.853-2A>G | ENSP00000466845.1:n.853-2A>G | |
| NM_000159.3:c.853-2A>G | NP_000150.1:n.853-2A>G | |
| NM_013976.3:c.853-2A>G | NP_039663.1:n.853-2A>G | |
| NR_102316.1:n.1016-2A>G | ||
| NR_102317.1:n.1234-2A>G | ||
| XM_006722721.2:c.853-2A>G | XP_006722784.1:n.853-2A>G | |
| XM_011527899.1:c.853-2A>G | XP_011526201.1:n.853-2A>G | |
| XM_011527900.1:c.853-2A>G | XP_011526202.1:n.853-2A>G | |
| XM_011527899.2:c.853-2A>G | XP_011526201.1:n.853-2A>G | |
| XM_011527900.2:c.853-2A>G | XP_011526202.1:n.853-2A>G | |
| XM_017026580.1:c.853-2A>G | XP_016882069.1:n.853-2A>G | |
| NM_000159.4:c.853-2A>G MANE Select | NP_000150.1:n.853-2A>G | |
| NM_013976.4:c.853-2A>G | NP_039663.1:n.853-2A>G | |
| NM_013976.5:c.853-2A>G | NP_039663.1:n.853-2A>G |