Linked Data
ClinVar Variation Id:
127720
ClinVar RCV Id:
RCV000115616
RCV000205536
RCV000212135
RCV000588742
RCV000678225
RCV001270956
RCV003128144
RCV003415888
dbSNP Id:
rs587780021
ExAC:
2:215610566 G / A
gnomAD v2:
2-215610566-G-A
gnomAD v3:
2-214745842-G-A
gnomAD v4:
2-214745842-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745842G>A , CM000664.2:g.214745842G>A | GRCh38 |
| NC_000002.11:g.215610566G>A , CM000664.1:g.215610566G>A | GRCh37 |
| NC_000002.10:g.215318811G>A | NCBI36 |
| NG_012047.2:g.68863C>T | |
| NG_012047.3:g.68870C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.1690C>T MANE Select | ENSP00000260947.4:p.Gln564Ter | |
| ENST00000421162.2:c.337C>T | ENSP00000392245.2:p.Gln113Ter | |
| ENST00000613192.2:c.159-15334C>T | ENSP00000483275.2:n.159-15334C>T | |
| ENST00000613374.5:c.280C>T | ENSP00000484464.1:p.Gln94Ter | |
| ENST00000613706.5:c.1282C>T | ENSP00000484976.2:p.Gln428Ter | |
| ENST00000617164.5:c.1633C>T | ENSP00000480470.1:p.Gln545Ter | |
| ENST00000619009.5:c.365-15334C>T | ENSP00000482293.1:n.365-15334C>T | |
| ENST00000650978.1:c.3065C>T | ||
| ENST00000260947.8:c.1690C>T | ENSP00000260947.4:p.Gln564Ter | |
| ENST00000421162.1:c.337C>T | ENSP00000392245.1:p.Gln113Ter | |
| ENST00000455743.5:c.*1310C>T | ENSP00000412186.1:n.*1310C>T | |
| ENST00000465841.1:n.45C>T | ||
| ENST00000613192.1:c.74-15334C>T | ENSP00000483275.1:n.74-15334C>T | |
| ENST00000613374.4:c.280C>T | ENSP00000484464.1:p.Gln94Ter | |
| ENST00000613706.4:c.337C>T | ENSP00000484976.1:p.Gln113Ter | |
| ENST00000617164.4:c.1633C>T | ENSP00000480470.1:p.Gln545Ter | |
| ENST00000619009.4:c.365-15334C>T | ENSP00000482293.1:n.365-15334C>T | |
| ENST00000620057.4:c.*356C>T | ENSP00000481988.1:n.*356C>T | |
| NM_000465.3:c.1690C>T | NP_000456.2:p.Gln564Ter | |
| NM_001282543.1:c.1633C>T | NP_001269472.1:p.Gln545Ter | |
| NM_001282545.1:c.337C>T | NP_001269474.1:p.Gln113Ter | |
| NM_001282548.1:c.280C>T | NP_001269477.1:p.Gln94Ter | |
| NM_001282549.1:c.365-15334C>T | NP_001269478.1:n.365-15334C>T | |
| NR_104212.1:n.1683C>T | ||
| NR_104215.1:n.1626C>T | ||
| NR_104216.1:n.882C>T | ||
| XM_011511567.1:c.1636C>T | XP_011509869.1:p.Gln546Ter | |
| XM_011511568.1:c.1690C>T | XP_011509870.1:p.Gln564Ter | |
| XM_017004613.1:c.1789C>T | XP_016860102.1:p.Gln597Ter | |
| XM_017004614.1:c.1789C>T | XP_016860103.1:p.Gln597Ter | |
| XR_002959322.1:n.1880C>T | ||
| NM_000465.4:c.1690C>T MANE Select | NP_000456.2:p.Gln564Ter | |
| NM_001282543.2:c.1633C>T | NP_001269472.1:p.Gln545Ter | |
| NM_001282545.2:c.337C>T | NP_001269474.1:p.Gln113Ter | |
| NM_001282548.2:c.280C>T | NP_001269477.1:p.Gln94Ter | |
| NM_001282549.2:c.365-15334C>T | NP_001269478.1:n.365-15334C>T | |
| NR_104212.2:n.1655C>T | ||
| NR_104215.2:n.1598C>T | ||
| NR_104216.2:n.854C>T |