Linked Data
ClinVar Variation Id:
94934
dbSNP Id:
rs138049094
ExAC:
2:238277707 T / C
gnomAD v2:
2-238277707-T-C
gnomAD v3:
2-237369064-T-C
gnomAD v4:
2-237369064-T-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237369064T>C , CM000664.2:g.237369064T>C | GRCh38 |
| NC_000002.11:g.238277707T>C , CM000664.1:g.238277707T>C | GRCh37 |
| NC_000002.10:g.237942446T>C | NCBI36 |
| NG_008676.1:g.50144A>G , LRG_473:g.50144A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.3781A>G | ENSP00000315873.4:p.Asn1261Asp | |
| ENST00000684597.1:c.117-388A>G | ||
| ENST00000295550.9:c.4399A>G MANE Select | ENSP00000295550.4:p.Asn1467Asp | |
| ENST00000295550.8:c.4399A>G | ENSP00000295550.4:p.Asn1467Asp | |
| ENST00000347401.7:c.2578A>G | ENSP00000315609.4:p.Asn860Asp | |
| ENST00000353578.8:c.3781A>G | ENSP00000315873.4:p.Asn1261Asp | |
| ENST00000409809.5:c.3781A>G | ENSP00000386844.1:p.Asn1261Asp | |
| ENST00000472056.5:c.2578A>G | ENSP00000418285.1:p.Asn860Asp | |
| NM_004369.3:c.4399A>G , LRG_473t1:c.4399A>G | NP_004360.2:p.Asn1467Asp | |
| NM_057166.4:c.2578A>G | NP_476507.3:p.Asn860Asp | |
| NM_057167.3:c.3781A>G | NP_476508.2:p.Asn1261Asp | |
| XM_005246065.1:c.3799A>G | XP_005246122.1:p.Asn1267Asp | |
| XM_005246066.1:c.3178A>G | XP_005246123.1:p.Asn1060Asp | |
| XM_006712253.1:c.4286-388A>G | XP_006712316.1:n.4286-388A>G | |
| XM_011510574.1:c.4396A>G | XP_011508876.1:p.Asn1466Asp | |
| XM_011510575.1:c.1993A>G | XP_011508877.1:p.Asn665Asp | |
| XM_017003304.1:c.1993A>G | XP_016858793.1:p.Asn665Asp | |
| XM_024452684.1:c.3178A>G | XP_024308452.1:p.Asn1060Asp | |
| NM_004369.4:c.4399A>G MANE Select | NP_004360.2:p.Asn1467Asp | |
| NM_057166.5:c.2578A>G | NP_476507.3:p.Asn860Asp | |
| NM_057167.4:c.3781A>G | NP_476508.2:p.Asn1261Asp |