Linked Data
ClinVar Variation Id:
198381
dbSNP Id:
rs370720208
ExAC:
11:108010835 G / A
gnomAD v2:
11-108010835-G-A
gnomAD v3:
11-108140108-G-A
gnomAD v4:
11-108140108-G-A
COSMIC:
COSM1350701
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108140108G>A , CM000673.2:g.108140108G>A | GRCh38 |
| NC_000011.9:g.108010835G>A , CM000673.1:g.108010835G>A | GRCh37 |
| NC_000011.8:g.107516045G>A | NCBI36 |
| NG_009888.1:g.23578G>A | |
| NG_009888.2:g.28404G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.9:c.623G>A MANE Select | ENSP00000265838.4:p.Arg208Gln | |
| ENST00000671707.1:n.718G>A | ||
| ENST00000672008.1:c.*181G>A | ENSP00000500499.1:n.*181G>A | |
| ENST00000672031.1:c.623G>A | ENSP00000500463.1:p.Arg208Gln | |
| ENST00000672284.1:c.353G>A | ENSP00000500444.1:p.Arg118Gln | |
| ENST00000672354.1:c.623G>A | ENSP00000500490.1:p.Arg208Gln | |
| ENST00000672367.1:c.260G>A | ENSP00000500209.1:p.Arg87Gln | |
| ENST00000672580.1:c.579+1067G>A | ENSP00000500366.1:n.579+1067G>A | |
| ENST00000672907.1:c.308G>A | ENSP00000500928.1:p.Arg103Gln | |
| ENST00000673000.1:n.711G>A | ||
| ENST00000673531.1:c.353G>A | ENSP00000500163.1:p.Arg118Gln | |
| ENST00000265838.8:c.623G>A | ENSP00000265838.4:p.Arg208Gln | |
| ENST00000531813.5:c.*96G>A | ENSP00000435965.1:n.*96G>A | |
| ENST00000532792.5:n.118G>A | ||
| ENST00000533610.1:n.84G>A | ||
| ENST00000534773.1:n.366G>A | ||
| NM_000019.3:c.623G>A | NP_000010.1:p.Arg208Gln | |
| XM_006718834.2:c.353G>A | XP_006718897.1:p.Arg118Gln | |
| XM_006718835.2:c.353G>A | XP_006718898.1:p.Arg118Gln | |
| XM_006718835.3:c.353G>A | XP_006718898.1:p.Arg118Gln | |
| XM_017017681.1:c.353G>A | XP_016873170.1:p.Arg118Gln | |
| XM_017017682.2:c.245G>A | XP_016873171.1:p.Arg82Gln | |
| XM_017017683.2:c.245G>A | XP_016873172.1:p.Arg82Gln | |
| XM_024448511.1:c.353G>A | XP_024304279.1:p.Arg118Gln | |
| XM_024448512.1:c.353G>A | XP_024304280.1:p.Arg118Gln | |
| XM_024448513.1:c.353G>A | XP_024304281.1:p.Arg118Gln | |
| XM_024448514.1:c.353G>A | XP_024304282.1:p.Arg118Gln | |
| XM_024448515.1:c.353G>A | XP_024304283.1:p.Arg118Gln | |
| NM_000019.4:c.623G>A MANE Select | NP_000010.1:p.Arg208Gln | |
| NM_001386677.1:c.623G>A | NP_001373606.1:p.Arg208Gln | |
| NM_001386678.1:c.308G>A | NP_001373607.1:p.Arg103Gln | |
| NM_001386679.1:c.326G>A | NP_001373608.1:p.Arg109Gln | |
| NM_001386681.1:c.353G>A | NP_001373610.1:p.Arg118Gln | |
| NM_001386682.1:c.353G>A | NP_001373611.1:p.Arg118Gln | |
| NM_001386685.1:c.353G>A | NP_001373614.1:p.Arg118Gln | |
| NM_001386686.1:c.353G>A | NP_001373615.1:p.Arg118Gln | |
| NM_001386687.1:c.353G>A | NP_001373616.1:p.Arg118Gln | |
| NM_001386688.1:c.353G>A | NP_001373617.1:p.Arg118Gln | |
| NM_001386689.1:c.353G>A | NP_001373618.1:p.Arg118Gln | |
| NM_001386690.1:c.353G>A | NP_001373619.1:p.Arg118Gln | |
| NM_001386691.1:c.353G>A | NP_001373620.1:p.Arg118Gln | |
| NR_170162.1:n.663G>A | ||
| NR_170163.1:n.656G>A |