Linked Data
ClinVar Variation Id:
499103
dbSNP Id:
rs770596449
ExAC:
13:23853526 A / G
gnomAD v2:
13-23853526-A-G
gnomAD v3:
13-23279387-A-G
gnomAD v4:
13-23279387-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23279387A>G , CM000675.2:g.23279387A>G | GRCh38 |
| NC_000013.10:g.23853526A>G , CM000675.1:g.23853526A>G | GRCh37 |
| NC_000013.9:g.22751526A>G | NCBI36 |
| NG_008759.1:g.103467A>G , LRG_207:g.103467A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218867.4:c.414A>G MANE Select | ENSP00000218867.3:p.Gln138= | |
| ENST00000218867.3:c.414A>G | ENSP00000218867.3:p.Gln138= | |
| NM_000231.2:c.414A>G , LRG_207t1:c.414A>G | NP_000222.1:p.Gln138= | |
| XM_005266505.2:c.414A>G | XP_005266562.1:p.Gln138= | |
| XM_006719861.2:c.468A>G | XP_006719924.1:p.Gln156= | |
| XM_006719861.3:c.468A>G | XP_006719924.1:p.Gln156= | |
| XM_024449397.1:c.414A>G | XP_024305165.1:p.Gln138= | |
| NM_000231.3:c.414A>G MANE Select | NP_000222.2:p.Gln138= | |
| NM_001378244.1:c.468A>G | NP_001365173.1:p.Gln156= | |
| NM_001378245.1:c.414A>G | NP_001365174.1:p.Gln138= | |
| NM_001378246.1:c.414A>G | NP_001365175.1:p.Gln138= |