Linked Data
ClinVar Variation Id:
2065576
ClinVar RCV Id:
RCV002958577
dbSNP Id:
rs368149615
ExAC:
13:23824850 A / C
gnomAD v2:
13-23824850-A-C
gnomAD v3:
13-23250711-A-C
gnomAD v4:
13-23250711-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23250711A>C , CM000675.2:g.23250711A>C | GRCh38 |
| NC_000013.10:g.23824850A>C , CM000675.1:g.23824850A>C | GRCh37 |
| NC_000013.9:g.22722850A>C | NCBI36 |
| NG_008759.1:g.74791A>C , LRG_207:g.74791A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218867.4:c.379A>C MANE Select | ENSP00000218867.3:p.Lys127Gln | |
| ENST00000218867.3:c.379A>C | ENSP00000218867.3:p.Lys127Gln | |
| NM_000231.2:c.379A>C , LRG_207t1:c.379A>C | NP_000222.1:p.Lys127Gln | |
| XM_005266505.2:c.379A>C | XP_005266562.1:p.Lys127Gln | |
| XM_006719861.2:c.433A>C | XP_006719924.1:p.Lys145Gln | |
| XM_006719861.3:c.433A>C | XP_006719924.1:p.Lys145Gln | |
| XM_024449397.1:c.379A>C | XP_024305165.1:p.Lys127Gln | |
| NM_000231.3:c.379A>C MANE Select | NP_000222.2:p.Lys127Gln | |
| NM_001378244.1:c.433A>C | NP_001365173.1:p.Lys145Gln | |
| NM_001378245.1:c.379A>C | NP_001365174.1:p.Lys127Gln | |
| NM_001378246.1:c.379A>C | NP_001365175.1:p.Lys127Gln |