Linked Data
ClinVar Variation Id:
139592
dbSNP Id:
rs2236017
ExAC:
12:114832510 C / A
gnomAD v2:
12-114832510-C-A
gnomAD v3:
12-114394705-C-A
gnomAD v4:
12-114394705-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114394705C>A , CM000674.2:g.114394705C>A | GRCh38 |
| NC_000012.11:g.114832510C>A , CM000674.1:g.114832510C>A | GRCh37 |
| NC_000012.10:g.113316893C>A | NCBI36 |
| NG_007373.1:g.18738G>T , LRG_670:g.18738G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.663+36G>T MANE Select | ENSP00000384152.3:n.663+36G>T | |
| ENST00000310346.8:c.663+36G>T | ENSP00000309913.4:n.663+36G>T | |
| ENST00000349716.9:c.513+36G>T | ENSP00000337723.5:n.513+36G>T | |
| ENST00000405440.6:c.663+36G>T | ENSP00000384152.2:n.663+36G>T | |
| ENST00000526441.1:c.663+36G>T | ENSP00000433292.1:n.663+36G>T | |
| NM_000192.3:c.663+36G>T , LRG_670t1:c.663+36G>T | NP_000183.2:n.663+36G>T | |
| NM_080717.2:c.513+36G>T | NP_542448.1:n.513+36G>T | |
| NM_181486.2:c.663+36G>T | NP_852259.1:n.663+36G>T | |
| XM_017019912.1:c.711+36G>T | XP_016875401.1:n.711+36G>T | |
| NM_080717.3:c.513+36G>T | NP_542448.1:n.513+36G>T | |
| NM_181486.4:c.663+36G>T MANE Select | NP_852259.1:n.663+36G>T | |
| NM_080717.4:c.513+36G>T | NP_542448.1:n.513+36G>T |