Linked Data
ClinVar Variation Id:
1313123
dbSNP Id:
rs746847841
ExAC:
17:48276663 T / C
gnomAD v2:
17-48276663-T-C
gnomAD v3:
17-50199302-T-C
gnomAD v4:
17-50199302-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199302T>C , CM000679.2:g.50199302T>C | GRCh38 |
| NC_000017.10:g.48276663T>C , CM000679.1:g.48276663T>C | GRCh37 |
| NC_000017.9:g.45631662T>C | NCBI36 |
| NG_007400.1:g.7338A>G , LRG_1:g.7338A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.395A>G MANE Select | ENSP00000225964.6:p.Asp132Gly | |
| ENST00000225964.9:c.395A>G | ENSP00000225964.5:p.Asp132Gly | |
| ENST00000474644.1:n.616A>G | ||
| ENST00000507689.1:c.449A>G | ENSP00000460459.1:p.Asp150Gly | |
| NM_000088.3:c.395A>G , LRG_1t1:c.395A>G | NP_000079.2:p.Asp132Gly | |
| XM_005257058.3:c.395A>G | XP_005257115.2:p.Asp132Gly | |
| XM_005257059.3:c.395A>G | XP_005257116.2:p.Asp132Gly | |
| XM_011524341.1:c.395A>G | XP_011522643.1:p.Asp132Gly | |
| XM_005257058.4:c.395A>G | XP_005257115.2:p.Asp132Gly | |
| XM_005257059.4:c.395A>G | XP_005257116.2:p.Asp132Gly | |
| NM_000088.4:c.395A>G MANE Select | NP_000079.2:p.Asp132Gly |