Linked Data
ClinVar Variation Id:
741568
ClinVar RCV Id:
RCV000917739
dbSNP Id:
rs528684022
ExAC:
9:140009115 G / A
gnomAD v2:
9-140009115-G-A
gnomAD v3:
9-137114663-G-A
gnomAD v4:
9-137114663-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137114663G>A , CM000671.2:g.137114663G>A | GRCh38 |
| NC_000009.11:g.140009115G>A , CM000671.1:g.140009115G>A | GRCh37 |
| NC_000009.10:g.139128936G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460830.2:n.90C>T | ||
| ENST00000472306.6:c.51C>T | ENSP00000473364.2:p.Arg17= | |
| ENST00000473532.6:c.51C>T | ENSP00000473430.2:p.Arg17= | |
| ENST00000706871.1:n.79C>T | ||
| ENST00000706872.1:n.79C>T | ||
| ENST00000706873.1:n.90C>T | ||
| ENST00000706874.1:n.90C>T | ||
| ENST00000706875.1:n.90C>T | ||
| ENST00000706876.1:n.90C>T | ||
| ENST00000706877.1:c.51C>T | ENSP00000516596.1:p.Arg17= | |
| ENST00000706878.1:c.51C>T | ENSP00000516597.1:p.Arg17= | |
| ENST00000706879.1:c.51C>T | ENSP00000516598.1:p.Arg17= | |
| ENST00000706880.1:n.392-87C>T | ||
| ENST00000706881.1:c.51C>T | ENSP00000516599.1:p.Arg17= | |
| ENST00000706882.1:n.66C>T | ||
| ENST00000371579.7:c.51C>T MANE Select | ENSP00000360635.2:p.Arg17= | |
| ENST00000371579.6:c.51C>T | ENSP00000360635.2:p.Arg17= | |
| ENST00000472306.5:c.29C>T | ||
| ENST00000473703.1:n.204-87C>T | ||
| ENST00000478597.5:n.64C>T | ||
| ENST00000485456.5:n.56C>T | ||
| ENST00000491807.5:n.41C>T | ||
| ENST00000497375.1:c.42C>T | ENSP00000473618.1:p.Arg14= | |
| NM_013379.2:c.51C>T | NP_037511.2:p.Arg17= | |
| XM_005266075.2:c.51C>T | XP_005266132.1:p.Arg17= | |
| XM_006717083.2:c.51C>T | XP_006717146.1:p.Arg17= | |
| XM_011518599.1:c.51C>T | XP_011516901.1:p.Arg17= | |
| XM_011518600.1:c.48-87C>T | XP_011516902.1:n.48-87C>T | |
| XM_011518601.1:c.51C>T | XP_011516903.1:p.Arg17= | |
| XR_929782.1:n.92C>T | ||
| XM_005266075.4:c.51C>T | XP_005266132.1:p.Arg17= | |
| XM_006717083.4:c.51C>T | XP_006717146.1:p.Arg17= | |
| XM_011518599.2:c.51C>T | XP_011516901.1:p.Arg17= | |
| XM_017014651.1:c.51C>T | XP_016870140.1:p.Arg17= | |
| XM_017014652.2:c.51C>T | XP_016870141.1:p.Arg17= | |
| XM_024447525.1:c.-898C>T | XP_024303293.1:n.-898C>T | |
| NM_013379.3:c.51C>T MANE Select | NP_037511.2:p.Arg17= |