Linked Data
ClinVar Variation Id:
141702
ClinVar RCV Id:
RCV000130318
RCV000234673
RCV000236005
RCV000678227
RCV000781932
RCV001355804
RCV003162583
dbSNP Id:
rs587781948
ExAC:
2:215595215 G / A
gnomAD v2:
2-215595215-G-A
gnomAD v3:
2-214730491-G-A
gnomAD v4:
2-214730491-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730491G>A , CM000664.2:g.214730491G>A | GRCh38 |
| NC_000002.11:g.215595215G>A , CM000664.1:g.215595215G>A | GRCh37 |
| NC_000002.10:g.215303460G>A | NCBI36 |
| NG_012047.2:g.84214C>T | |
| NG_012047.3:g.84221C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1921C>T MANE Select | ENSP00000260947.4:p.Arg641Ter | |
| ENST00000421162.2:c.568C>T | ENSP00000392245.2:p.Arg190Ter | |
| ENST00000613192.2:c.176C>T | ENSP00000483275.2:p.Thr59Met | |
| ENST00000613374.5:c.511C>T | ENSP00000484464.1:p.Arg171Ter | |
| ENST00000613706.5:c.1513C>T | ENSP00000484976.2:p.Arg505Ter | |
| ENST00000617164.5:c.1864C>T | ENSP00000480470.1:p.Arg622Ter | |
| ENST00000619009.5:c.382C>T | ENSP00000482293.1:p.Arg128Ter | |
| ENST00000650978.1:c.3296C>T | ||
| ENST00000260947.8:c.1921C>T | ENSP00000260947.4:p.Arg641Ter | |
| ENST00000421162.1:c.568C>T | ENSP00000392245.1:p.Arg190Ter | |
| ENST00000432456.5:c.18C>T | ||
| ENST00000455743.5:c.*1541C>T | ENSP00000412186.1:n.*1541C>T | |
| ENST00000471590.5:n.256C>T | ||
| ENST00000613192.1:c.91C>T | ENSP00000483275.1:p.Arg31Ter | |
| ENST00000613374.4:c.511C>T | ENSP00000484464.1:p.Arg171Ter | |
| ENST00000613706.4:c.568C>T | ENSP00000484976.1:p.Arg190Ter | |
| ENST00000617164.4:c.1864C>T | ENSP00000480470.1:p.Arg622Ter | |
| ENST00000619009.4:c.382C>T | ENSP00000482293.1:p.Arg128Ter | |
| ENST00000620057.4:c.*587C>T | ENSP00000481988.1:n.*587C>T | |
| NM_000465.3:c.1921C>T | NP_000456.2:p.Arg641Ter | |
| NM_001282543.1:c.1864C>T | NP_001269472.1:p.Arg622Ter | |
| NM_001282545.1:c.568C>T | NP_001269474.1:p.Arg190Ter | |
| NM_001282548.1:c.511C>T | NP_001269477.1:p.Arg171Ter | |
| NM_001282549.1:c.382C>T | NP_001269478.1:p.Arg128Ter | |
| NR_104212.1:n.1914C>T | ||
| NR_104215.1:n.1857C>T | ||
| NR_104216.1:n.1113C>T | ||
| XM_011511567.1:c.1867C>T | XP_011509869.1:p.Arg623Ter | |
| XM_017004613.1:c.2020C>T | XP_016860102.1:p.Arg674Ter | |
| XR_002959322.1:n.2111C>T | ||
| NM_000465.4:c.1921C>T MANE Select | NP_000456.2:p.Arg641Ter | |
| NM_001282543.2:c.1864C>T | NP_001269472.1:p.Arg622Ter | |
| NM_001282545.2:c.568C>T | NP_001269474.1:p.Arg190Ter | |
| NM_001282548.2:c.511C>T | NP_001269477.1:p.Arg171Ter | |
| NM_001282549.2:c.382C>T | NP_001269478.1:p.Arg128Ter | |
| NR_104212.2:n.1886C>T | ||
| NR_104215.2:n.1829C>T | ||
| NR_104216.2:n.1085C>T |