Linked Data
dbSNP Id:
rs16924631
gnomAD v2:
9-6486308-G-C
gnomAD v3:
9-6486308-G-C
gnomAD v4:
9-6486308-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6486308G>C , CM000671.2:g.6486308G>C | GRCh38 |
| NC_000009.11:g.6486308G>C , CM000671.1:g.6486308G>C | GRCh37 |
| NC_000009.10:g.6476308G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276893.10:c.1393-513G>C MANE Select | ENSP00000276893.5:n.1393-513G>C | |
| ENST00000276893.9:c.1393-513G>C | ENSP00000276893.5:n.1393-513G>C | |
| ENST00000468435.6:c.1393-513G>C | ENSP00000434182.1:n.1393-513G>C | |
| ENST00000477183.1:n.140-513G>C | ||
| ENST00000484159.5:n.835-513G>C | ||
| NM_152896.2:c.1393-513G>C | NP_690856.1:n.1393-513G>C | |
| NR_046386.1:n.1733-513G>C | ||
| XM_011517703.1:c.1393-513G>C | XP_011516005.1:n.1393-513G>C | |
| XM_011517704.1:c.724-513G>C | XP_011516006.1:n.724-513G>C | |
| XM_011517705.1:c.724-513G>C | XP_011516007.1:n.724-513G>C | |
| XM_011517706.1:c.553-513G>C | XP_011516008.1:n.553-513G>C | |
| XR_428418.2:n.1736-513G>C | ||
| XR_428419.2:n.1736-513G>C | ||
| XR_428420.2:n.1736-513G>C | ||
| XR_428421.2:n.1736-513G>C | ||
| XR_929173.1:n.1736-513G>C | ||
| XM_011517704.2:c.724-513G>C | XP_011516006.1:n.724-513G>C | |
| XM_011517705.2:c.724-513G>C | XP_011516007.1:n.724-513G>C | |
| XM_017014253.1:c.1174-513G>C | XP_016869742.1:n.1174-513G>C | |
| XM_017014254.1:c.553-513G>C | XP_016869743.1:n.553-513G>C | |
| XR_001746178.2:n.1736-513G>C | ||
| XR_001746179.1:n.1736-513G>C | ||
| XR_001746180.2:n.1736-513G>C | ||
| XR_001746181.1:n.1736-513G>C | ||
| XR_001746182.1:n.1736-513G>C | ||
| XR_428418.4:n.1736-513G>C | ||
| NM_152896.3:c.1393-513G>C MANE Select | NP_690856.1:n.1393-513G>C | |
| NR_046386.2:n.1685-513G>C |