Linked Data
ClinVar Variation Id:
722198
ClinVar RCV Id:
RCV000895803
dbSNP Id:
rs139646398
ExAC:
11:100933407 G / A
gnomAD v2:
11-100933407-G-A
gnomAD v3:
11-101062676-G-A
gnomAD v4:
11-101062676-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101062676G>A , CM000673.2:g.101062676G>A | GRCh38 |
| NC_000011.9:g.100933407G>A , CM000673.1:g.100933407G>A | GRCh37 |
| NC_000011.8:g.100438617G>A | NCBI36 |
| NG_016475.1:g.72138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325455.10:c.1983C>T MANE Select | ENSP00000325120.5:p.Gly661= | |
| ENST00000263463.9:c.1907-11108C>T | ENSP00000263463.5:n.1907-11108C>T | |
| ENST00000325455.9:c.1983C>T | ENSP00000325120.5:p.Gly661= | |
| ENST00000526300.5:c.1907-11108C>T | ENSP00000436803.1:n.1907-11108C>T | |
| ENST00000528960.5:c.1866C>T | ENSP00000432914.1:p.Gly622= | |
| ENST00000533207.5:n.1350C>T | ||
| ENST00000534013.5:c.201C>T | ENSP00000436561.1:p.Gly67= | |
| ENST00000534780.5:c.1983C>T | ENSP00000432352.1:p.Gly661= | |
| ENST00000617858.4:c.1907-11108C>T | ENSP00000481227.1:n.1907-11108C>T | |
| ENST00000619228.2:c.1866C>T | ENSP00000482698.1:p.Gly622= | |
| ENST00000632634.1:c.405C>T | ENSP00000487607.1:p.Gly135= | |
| NM_000926.4:c.1983C>T MANE Select | NP_000917.3:p.Gly661= | |
| NM_001202474.3:c.1491C>T | NP_001189403.1:p.Gly497= | |
| NM_001271161.2:c.1415-11108C>T | NP_001258090.1:n.1415-11108C>T | |
| NM_001271162.1:c.201C>T | NP_001258091.1:p.Gly67= | |
| NR_073141.2:n.1976C>T | ||
| NR_073142.2:n.1859C>T | ||
| NR_073143.2:n.1900-11108C>T | ||
| XM_006718858.2:c.1983C>T | XP_006718921.1:p.Gly661= | |
| XR_947831.1:n.3555C>T | ||
| XM_006718858.3:c.1983C>T | XP_006718921.1:p.Gly661= | |
| NM_001271162.2:c.201C>T | NP_001258091.1:p.Gly67= | |
| NR_073141.3:n.1990C>T | ||
| NR_073142.3:n.1873C>T | ||
| NR_073143.3:n.1914-11108C>T |