Linked Data
dbSNP Id:
rs115102486
gnomAD v2:
14-95764564-A-G
gnomAD v3:
14-95298227-A-G
gnomAD v4:
14-95298227-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95298227A>G , CM000676.2:g.95298227A>G | GRCh38 |
| NC_000014.8:g.95764564A>G , CM000676.1:g.95764564A>G | GRCh37 |
| NC_000014.7:g.94834317A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298912.9:c.82+21484T>C MANE Select | ENSP00000298912.3:n.82+21484T>C | |
| ENST00000298912.8:c.82+21484T>C | ENSP00000298912.3:n.82+21484T>C | |
| ENST00000553733.1:c.82+21484T>C | ENSP00000451189.1:n.82+21484T>C | |
| ENST00000555615.1:c.-123+9287T>C | ENSP00000452525.1:n.-123+9287T>C | |
| NM_024734.3:c.82+21484T>C | NP_079010.2:n.82+21484T>C | |
| XM_011537158.1:c.82+21484T>C | XP_011535460.1:n.82+21484T>C | |
| XM_011537159.1:c.82+21484T>C | XP_011535461.1:n.82+21484T>C | |
| XR_245721.2:n.194+21484T>C | ||
| XR_429330.2:n.194+21484T>C | ||
| XR_429332.2:n.194+21484T>C | ||
| XM_011537159.2:c.82+21484T>C | XP_011535461.1:n.82+21484T>C | |
| XM_017021646.1:c.22+21012T>C | XP_016877135.1:n.22+21012T>C | |
| XM_017021647.1:c.82+21484T>C | XP_016877136.1:n.82+21484T>C | |
| XR_001750558.1:n.194+21484T>C | ||
| NM_024734.4:c.82+21484T>C MANE Select | NP_079010.2:n.82+21484T>C |