Linked Data
ClinVar Variation Id:
374855
dbSNP Id:
rs1057519424
gnomAD v2:
8-37630271-A-G
gnomAD v3:
8-37772753-A-G
gnomAD v4:
8-37772753-A-G
PubMed:
PMID:27912044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37772753A>G , CM000670.2:g.37772753A>G | GRCh38 |
| NC_000008.10:g.37630271A>G , CM000670.1:g.37630271A>G | GRCh37 |
| NC_000008.9:g.37749429A>G | NCBI36 |
| NG_053030.1:g.16001A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328195.8:c.320-2A>G MANE Select | ENSP00000333551.3:n.320-2A>G | |
| ENST00000328195.7:c.320-2A>G | ENSP00000333551.3:n.320-2A>G | |
| ENST00000518036.5:c.*172-2A>G | ENSP00000428005.1:n.*172-2A>G | |
| ENST00000521631.1:n.1A>G | ||
| ENST00000523187.5:c.164-2A>G | ENSP00000427886.1:n.164-2A>G | |
| ENST00000523358.5:c.320-2A>G | ENSP00000427778.1:n.320-2A>G | |
| ENST00000523521.1:c.77-2A>G | ENSP00000429425.1:n.77-2A>G | |
| NM_007198.3:c.320-2A>G | NP_009129.1:n.320-2A>G | |
| NM_001349346.1:c.320-2A>G | NP_001336275.1:n.320-2A>G | |
| NM_001349347.1:c.314-2A>G | NP_001336276.1:n.314-2A>G | |
| NM_001349348.1:c.164-2A>G | NP_001336277.1:n.164-2A>G | |
| NM_007198.4:c.320-2A>G MANE Select | NP_009129.1:n.320-2A>G | |
| NM_001349346.2:c.320-2A>G | NP_001336275.1:n.320-2A>G | |
| NM_001349347.2:c.314-2A>G | NP_001336276.1:n.314-2A>G | |
| NM_001349348.2:c.164-2A>G | NP_001336277.1:n.164-2A>G |