Linked Data
dbSNP Id:
rs535566624
ExAC:
17:48276770 A / C
gnomAD v2:
17-48276770-A-C
gnomAD v3:
17-50199409-A-C
gnomAD v4:
17-50199409-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199409A>C , CM000679.2:g.50199409A>C | GRCh38 |
| NC_000017.10:g.48276770A>C , CM000679.1:g.48276770A>C | GRCh37 |
| NC_000017.9:g.45631769A>C | NCBI36 |
| NG_007400.1:g.7231T>G , LRG_1:g.7231T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.369+9T>G MANE Select | ENSP00000225964.6:n.369+9T>G | |
| ENST00000225964.9:c.369+9T>G | ENSP00000225964.5:n.369+9T>G | |
| ENST00000474644.1:n.590+9T>G | ||
| ENST00000507689.1:c.423+9T>G | ENSP00000460459.1:n.423+9T>G | |
| NM_000088.3:c.369+9T>G , LRG_1t1:c.369+9T>G | NP_000079.2:n.369+9T>G | |
| XM_005257058.3:c.369+9T>G | XP_005257115.2:n.369+9T>G | |
| XM_005257059.3:c.369+9T>G | XP_005257116.2:n.369+9T>G | |
| XM_011524341.1:c.369+9T>G | XP_011522643.1:n.369+9T>G | |
| XM_005257058.4:c.369+9T>G | XP_005257115.2:n.369+9T>G | |
| XM_005257059.4:c.369+9T>G | XP_005257116.2:n.369+9T>G | |
| NM_000088.4:c.369+9T>G MANE Select | NP_000079.2:n.369+9T>G |