Linked Data
ClinVar Variation Id:
1628537
dbSNP Id:
rs775965149
ExAC:
17:48271518 A / C
gnomAD v2:
17-48271518-A-C
gnomAD v3:
17-50194157-A-C
gnomAD v4:
17-50194157-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194157A>C , CM000679.2:g.50194157A>C | GRCh38 |
| NC_000017.10:g.48271518A>C , CM000679.1:g.48271518A>C | GRCh37 |
| NC_000017.9:g.45626517A>C | NCBI36 |
| NG_007400.1:g.12483T>G , LRG_1:g.12483T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1641T>G MANE Select | ENSP00000225964.6:p.Pro547= | |
| ENST00000225964.9:c.1641T>G | ENSP00000225964.5:p.Pro547= | |
| ENST00000463440.1:n.31T>G | ||
| ENST00000471344.1:n.585T>G | ||
| NM_000088.3:c.1641T>G , LRG_1t1:c.1641T>G | NP_000079.2:p.Pro547= | |
| XM_005257058.3:c.1641T>G | XP_005257115.2:p.Pro547= | |
| XM_005257059.3:c.958-1464T>G | XP_005257116.2:n.958-1464T>G | |
| XM_011524341.1:c.1443T>G | XP_011522643.1:p.Pro481= | |
| XM_005257058.4:c.1641T>G | XP_005257115.2:p.Pro547= | |
| XM_005257059.4:c.958-1464T>G | XP_005257116.2:n.958-1464T>G | |
| NM_000088.4:c.1641T>G MANE Select | NP_000079.2:p.Pro547= |