Linked Data
ClinVar Variation Id:
161857
dbSNP Id:
rs193921002
ExAC:
1:44474038 C / T
gnomAD v2:
1-44474038-C-T
gnomAD v3:
1-44008366-C-T
gnomAD v4:
1-44008366-C-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44008366C>T , CM000663.2:g.44008366C>T | GRCh38 |
| NC_000001.10:g.44474038C>T , CM000663.1:g.44474038C>T | GRCh37 |
| NC_000001.9:g.44246625C>T | NCBI36 |
| NG_050929.1:g.28127G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372310.8:c.577G>A MANE Select | ENSP00000361384.4:p.Glu193Lys | |
| ENST00000673836.1:c.577G>A | ENSP00000501314.1:p.Glu193Lys | |
| ENST00000357730.6:c.634G>A | ENSP00000350362.2:p.Glu212Lys | |
| ENST00000360584.6:c.796G>A | ENSP00000353791.2:p.Glu266Lys | |
| ENST00000372306.7:c.577G>A | ENSP00000361380.3:p.Glu193Lys | |
| ENST00000372307.7:c.382G>A | ENSP00000361381.3:p.Glu128Lys | |
| ENST00000372310.7:c.577G>A | ENSP00000361384.3:p.Glu193Lys | |
| ENST00000475075.6:c.244G>A | ENSP00000434460.1:p.Glu82Lys | |
| NM_001024845.2:c.577G>A | NP_001020016.1:p.Glu193Lys | |
| NM_001261380.1:c.589G>A | NP_001248309.1:p.Glu197Lys | |
| NM_006934.3:c.634G>A | NP_008865.2:p.Glu212Lys | |
| NM_201649.3:c.796G>A | NP_964012.2:p.Glu266Lys | |
| NR_048548.1:n.841G>A | ||
| NR_048549.1:n.560G>A | ||
| XM_011542017.1:c.796G>A | XP_011540319.1:p.Glu266Lys | |
| NM_001328626.1:c.244G>A | NP_001315555.1:p.Glu82Lys | |
| NM_001328627.1:c.514G>A | NP_001315556.1:p.Glu172Lys | |
| NM_001328628.1:c.382G>A | NP_001315557.1:p.Glu128Lys | |
| NM_001328629.1:c.577G>A | NP_001315558.1:p.Glu193Lys | |
| NM_001328630.1:c.244G>A | NP_001315559.1:p.Glu82Lys | |
| XM_011542017.2:c.796G>A | XP_011540319.1:p.Glu266Lys | |
| XM_017002152.2:c.496G>A | XP_016857641.1:p.Glu166Lys | |
| XM_017002153.2:c.463G>A | XP_016857642.1:p.Glu155Lys | |
| XM_024449295.1:c.382G>A | XP_024305063.1:p.Glu128Lys | |
| NM_001024845.3:c.577G>A MANE Select | NP_001020016.1:p.Glu193Lys | |
| NM_001261380.2:c.589G>A | NP_001248309.1:p.Glu197Lys | |
| NM_001328626.2:c.244G>A | NP_001315555.1:p.Glu82Lys | |
| NM_001328630.2:c.244G>A | NP_001315559.1:p.Glu82Lys | |
| NM_006934.4:c.634G>A | NP_008865.2:p.Glu212Lys | |
| NM_201649.4:c.796G>A | NP_964012.2:p.Glu266Lys | |
| NR_048548.2:n.664G>A |