Linked Data
dbSNP Id:
rs750102296
ExAC:
17:48273371 A / C
gnomAD v2:
17-48273371-A-C
gnomAD v4:
17-50196010-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50196010A>C , CM000679.2:g.50196010A>C | GRCh38 |
| NC_000017.10:g.48273371A>C , CM000679.1:g.48273371A>C | GRCh37 |
| NC_000017.9:g.45628370A>C | NCBI36 |
| NG_007400.1:g.10630T>G , LRG_1:g.10630T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1003-34T>G MANE Select | ENSP00000225964.6:n.1003-34T>G | |
| ENST00000225964.9:c.1003-34T>G | ENSP00000225964.5:n.1003-34T>G | |
| NM_000088.3:c.1003-34T>G , LRG_1t1:c.1003-34T>G | NP_000079.2:n.1003-34T>G | |
| XM_005257058.3:c.1003-34T>G | XP_005257115.2:n.1003-34T>G | |
| XM_005257059.3:c.957+304T>G | XP_005257116.2:n.957+304T>G | |
| XM_011524341.1:c.957+304T>G | XP_011522643.1:n.957+304T>G | |
| XM_005257058.4:c.1003-34T>G | XP_005257115.2:n.1003-34T>G | |
| XM_005257059.4:c.957+304T>G | XP_005257116.2:n.957+304T>G | |
| NM_000088.4:c.1003-34T>G MANE Select | NP_000079.2:n.1003-34T>G |