Linked Data
ClinVar Variation Id:
531833
dbSNP Id:
rs192196713
ExAC:
2:63719991 C / T
gnomAD v2:
2-63719991-C-T
gnomAD v3:
2-63492857-C-T
gnomAD v4:
2-63492857-C-T
PubMed:
PMID:25363768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63492857C>T , CM000664.2:g.63492857C>T | GRCh38 |
| NC_000002.11:g.63719991C>T , CM000664.1:g.63719991C>T | GRCh37 |
| NC_000002.10:g.63573495C>T | NCBI36 |
| NG_028144.1:g.100877G>A | |
| NG_028144.2:g.352969G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272321.12:c.159G>A MANE Select | ENSP00000272321.7:p.Ala53= | |
| ENST00000272321.11:c.159G>A | ENSP00000272321.7:p.Ala53= | |
| ENST00000409562.7:c.159G>A | ENSP00000387222.3:p.Ala53= | |
| ENST00000409835.5:n.406G>A | ||
| ENST00000417238.5:c.*270G>A | ENSP00000411429.1:n.*270G>A | |
| ENST00000418148.5:c.154G>A | ||
| ENST00000431065.1:c.159G>A | ENSP00000396226.1:p.Ala53= | |
| ENST00000467687.1:n.572G>A | ||
| ENST00000490935.5:n.667G>A | ||
| NM_015910.5:c.159G>A | NP_056994.3:p.Ala53= | |
| XM_005264348.2:c.159G>A | XP_005264405.1:p.Ala53= | |
| XM_011532881.1:c.87G>A | XP_011531183.1:p.Ala29= | |
| XM_011532882.1:c.60G>A | XP_011531184.1:p.Ala20= | |
| XM_011532883.1:c.159G>A | XP_011531185.1:p.Ala53= | |
| XM_011532884.1:c.159G>A | XP_011531186.1:p.Ala53= | |
| XM_011532885.1:c.159G>A | XP_011531187.1:p.Ala53= | |
| XM_011532886.1:c.159G>A | XP_011531188.1:p.Ala53= | |
| XM_011532887.1:c.159G>A | XP_011531189.1:p.Ala53= | |
| XM_011532888.1:c.159G>A | XP_011531190.1:p.Ala53= | |
| XM_011532889.1:c.159G>A | XP_011531191.1:p.Ala53= | |
| XM_011532890.1:c.159G>A | XP_011531192.1:p.Ala53= | |
| XM_011532891.1:c.87G>A | XP_011531193.1:p.Ala29= | |
| XR_244934.1:n.406G>A | ||
| XR_244935.1:n.406G>A | ||
| XR_939686.1:n.406G>A | ||
| NM_001354044.1:c.87G>A | NP_001340973.1:p.Ala29= | |
| NM_001354045.1:c.159G>A | NP_001340974.1:p.Ala53= | |
| NM_015910.6:c.159G>A | NP_056994.3:p.Ala53= | |
| NR_148704.1:n.939G>A | ||
| NR_148705.1:n.687G>A | ||
| XM_005264348.4:c.159G>A | XP_005264405.1:p.Ala53= | |
| XM_011532881.3:c.87G>A | XP_011531183.1:p.Ala29= | |
| XM_011532884.3:c.159G>A | XP_011531186.1:p.Ala53= | |
| XM_011532887.3:c.159G>A | XP_011531189.1:p.Ala53= | |
| XM_011532890.3:c.159G>A | XP_011531192.1:p.Ala53= | |
| XM_011532891.2:c.87G>A | XP_011531193.1:p.Ala29= | |
| XM_017004253.2:c.159G>A | XP_016859742.1:p.Ala53= | |
| XM_017004254.2:c.159G>A | XP_016859743.1:p.Ala53= | |
| XR_001738759.2:n.621G>A | ||
| XR_001738760.2:n.621G>A | ||
| XR_002959303.1:n.621G>A | ||
| XR_244934.3:n.621G>A | ||
| NM_015910.7:c.159G>A MANE Select | NP_056994.3:p.Ala53= | |
| NM_001354044.2:c.87G>A | NP_001340973.1:p.Ala29= | |
| NM_001354045.2:c.159G>A | NP_001340974.1:p.Ala53= | |
| NR_148704.2:n.617G>A | ||
| NR_148705.2:n.365G>A |