Linked Data
ClinVar Variation Id:
2047013
ClinVar RCV Id:
RCV002903981
dbSNP Id:
rs754186993
ExAC:
17:48274444 A / C
gnomAD v2:
17-48274444-A-C
gnomAD v3:
17-50197083-A-C
gnomAD v4:
17-50197083-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50197083A>C , CM000679.2:g.50197083A>C | GRCh38 |
| NC_000017.10:g.48274444A>C , CM000679.1:g.48274444A>C | GRCh37 |
| NC_000017.9:g.45629443A>C | NCBI36 |
| NG_007400.1:g.9557T>G , LRG_1:g.9557T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.751-20T>G MANE Select | ENSP00000225964.6:n.751-20T>G | |
| ENST00000225964.9:c.751-20T>G | ENSP00000225964.5:n.751-20T>G | |
| ENST00000495677.1:n.478-20T>G | ||
| NM_000088.3:c.751-20T>G , LRG_1t1:c.751-20T>G | NP_000079.2:n.751-20T>G | |
| XM_005257058.3:c.751-20T>G | XP_005257115.2:n.751-20T>G | |
| XM_005257059.3:c.751-20T>G | XP_005257116.2:n.751-20T>G | |
| XM_011524341.1:c.751-20T>G | XP_011522643.1:n.751-20T>G | |
| XM_005257058.4:c.751-20T>G | XP_005257115.2:n.751-20T>G | |
| XM_005257059.4:c.751-20T>G | XP_005257116.2:n.751-20T>G | |
| NM_000088.4:c.751-20T>G MANE Select | NP_000079.2:n.751-20T>G |