Linked Data
ClinVar Variation Id:
2562396
ClinVar RCV Id:
RCV003310456
dbSNP Id:
rs1283246494
gnomAD v2:
11-111965557-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094833G>A , CM000673.2:g.112094833G>A | GRCh38 |
| NC_000011.9:g.111965557G>A , CM000673.1:g.111965557G>A | GRCh37 |
| NC_000011.8:g.111470767G>A | NCBI36 |
| NG_012337.2:g.12987G>A | |
| NG_012337.3:g.12987G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530923.6:c.*82G>A | ENSP00000432946.2:n.*82G>A | |
| ENST00000534010.2:c.314+5822G>A | ENSP00000433202.2:n.314+5822G>A | |
| ENST00000375549.8:c.343G>A MANE Select | ENSP00000364699.3:p.Val115Ile | |
| ENST00000528021.6:c.314+5822G>A | ENSP00000432465.1:n.314+5822G>A | |
| ENST00000375549.7:c.343G>A | ENSP00000364699.3:p.Val115Ile | |
| ENST00000525291.5:c.226G>A | ENSP00000436669.1:p.Val76Ile | |
| ENST00000525987.5:n.319+5822G>A | ||
| ENST00000526592.5:c.*41G>A | ENSP00000432005.1:n.*41G>A | |
| ENST00000528021.5:c.314+5822G>A | ENSP00000432465.1:n.314+5822G>A | |
| ENST00000528048.5:c.198G>A | ENSP00000436217.1:p.Met66Ile | |
| ENST00000528182.5:c.336G>A | ENSP00000435475.1:p.Met112Ile | |
| ENST00000530923.5:c.387G>A | ||
| ENST00000531744.5:c.314+5822G>A | ENSP00000456957.1:n.314+5822G>A | |
| ENST00000532699.1:c.314+5822G>A | ENSP00000456434.1:n.314+5822G>A | |
| ENST00000534010.1:c.145+5822G>A | ||
| NM_001276503.1:c.198G>A | NP_001263432.1:p.Met66Ile | |
| NM_001276504.1:c.226G>A | NP_001263433.1:p.Val76Ile | |
| NM_001276506.1:c.*41G>A | NP_001263435.1:n.*41G>A | |
| NM_003002.3:c.343G>A | NP_002993.1:p.Val115Ile | |
| NR_077060.1:n.481G>A | ||
| NM_003002.4:c.343G>A MANE Select | NP_002993.1:p.Val115Ile | |
| NM_001276503.2:c.198G>A | NP_001263432.1:p.Met66Ile | |
| NM_001276504.2:c.226G>A | NP_001263433.1:p.Val76Ile | |
| NM_001276506.2:c.*41G>A | NP_001263435.1:n.*41G>A | |
| NR_077060.2:n.432G>A |