Linked Data
ClinVar Variation Id:
1362356
ClinVar RCV Id:
RCV001932249
dbSNP Id:
rs2102561800
COSMIC:
COSM123858
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210920014C>T , CM000663.2:g.210920014C>T | GRCh38 |
| NC_000001.10:g.211093356C>T , CM000663.1:g.211093356C>T | GRCh37 |
| NC_000001.9:g.209159979C>T | NCBI36 |
| NG_029777.1:g.219102G>A | |
| NG_029777.2:g.219102G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271751.10:c.1088G>A MANE Select | ENSP00000271751.4:p.Arg363Gln | |
| ENST00000367007.5:c.1007G>A | ENSP00000355974.5:p.Arg336Gln | |
| ENST00000638357.1:c.421G>A | ||
| ENST00000638498.1:c.1088G>A | ENSP00000490983.1:p.Arg363Gln | |
| ENST00000638960.1:c.1007G>A | ENSP00000492302.1:p.Arg336Gln | |
| ENST00000638983.1:c.952-58820G>A | ENSP00000492641.1:n.952-58820G>A | |
| ENST00000639385.1:n.456G>A | ||
| ENST00000639602.1:c.878G>A | ENSP00000492303.1:p.Arg293Gln | |
| ENST00000639754.1:n.1291G>A | ||
| ENST00000639952.1:c.1007G>A | ENSP00000492697.1:p.Arg336Gln | |
| ENST00000640044.1:c.311-115848G>A | ENSP00000491434.1:n.311-115848G>A | |
| ENST00000640243.1:c.951+98850G>A | ENSP00000492803.1:n.951+98850G>A | |
| ENST00000640522.1:c.1032+98769G>A | ENSP00000491019.1:n.1032+98769G>A | |
| ENST00000640528.1:c.1007G>A | ENSP00000491725.1:p.Arg336Gln | |
| ENST00000640566.1:c.311-144470G>A | ENSP00000491302.1:n.311-144470G>A | |
| ENST00000640710.1:c.1007G>A | ENSP00000492513.1:p.Arg336Gln | |
| ENST00000640890.1:n.1109G>A | ||
| ENST00000271751.8:c.1088G>A | ENSP00000271751.4:p.Arg363Gln | |
| ENST00000367007.4:c.1007G>A | ENSP00000355974.4:p.Arg336Gln | |
| NM_002238.3:c.1007G>A | NP_002229.1:p.Arg336Gln | |
| NM_172362.2:c.1088G>A | NP_758872.1:p.Arg363Gln | |
| XM_011509514.1:c.-89G>A | XP_011507816.1:n.-89G>A | |
| XM_017001246.1:c.-89G>A | XP_016856735.1:n.-89G>A | |
| NM_172362.3:c.1088G>A MANE Select | NP_758872.1:p.Arg363Gln | |
| NM_002238.4:c.1007G>A | NP_002229.1:p.Arg336Gln |