Linked Data
ClinVar Variation Id:
840863
dbSNP Id:
rs776611767
ExAC:
17:48276667 G / T
gnomAD v2:
17-48276667-G-T
gnomAD v3:
17-50199306-G-T
gnomAD v4:
17-50199306-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199306G>T , CM000679.2:g.50199306G>T | GRCh38 |
| NC_000017.10:g.48276667G>T , CM000679.1:g.48276667G>T | GRCh37 |
| NC_000017.9:g.45631666G>T | NCBI36 |
| NG_007400.1:g.7334C>A , LRG_1:g.7334C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.391C>A MANE Select | ENSP00000225964.6:p.Arg131= | |
| ENST00000225964.9:c.391C>A | ENSP00000225964.5:p.Arg131= | |
| ENST00000474644.1:n.612C>A | ||
| ENST00000507689.1:c.445C>A | ENSP00000460459.1:p.Arg149= | |
| NM_000088.3:c.391C>A , LRG_1t1:c.391C>A | NP_000079.2:p.Arg131= | |
| XM_005257058.3:c.391C>A | XP_005257115.2:p.Arg131= | |
| XM_005257059.3:c.391C>A | XP_005257116.2:p.Arg131= | |
| XM_011524341.1:c.391C>A | XP_011522643.1:p.Arg131= | |
| XM_005257058.4:c.391C>A | XP_005257115.2:p.Arg131= | |
| XM_005257059.4:c.391C>A | XP_005257116.2:p.Arg131= | |
| NM_000088.4:c.391C>A MANE Select | NP_000079.2:p.Arg131= |