Linked Data
ClinVar Variation Id:
92732
dbSNP Id:
rs59326968
ExAC:
12:103234215 A / G
gnomAD v2:
12-103234215-A-G
gnomAD v3:
12-102840437-A-G
gnomAD v4:
12-102840437-A-G
ERepo:
CA145978/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840437A>G , CM000674.2:g.102840437A>G | GRCh38 |
| NC_000012.11:g.103234215A>G , CM000674.1:g.103234215A>G | GRCh37 |
| NC_000012.10:g.101758345A>G | NCBI36 |
| NG_008690.1:g.82166T>C | |
| NG_008690.2:g.122974T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1278T>C MANE Select | ENSP00000448059.1:p.Asn426= | |
| ENST00000307000.7:c.1263T>C | ENSP00000303500.2:p.Asn421= | |
| ENST00000551114.2:n.940T>C | ||
| ENST00000553106.5:c.1278T>C | ENSP00000448059.1:p.Asn426= | |
| ENST00000635477.1:c.382T>C | ||
| ENST00000635528.1:n.793T>C | ||
| NM_000277.1:c.1278T>C | NP_000268.1:p.Asn426= | |
| XM_011538422.1:c.1221T>C | XP_011536724.1:p.Asn407= | |
| NM_000277.2:c.1278T>C | NP_000268.1:p.Asn426= | |
| NM_001354304.1:c.1278T>C | NP_001341233.1:p.Asn426= | |
| NM_000277.3:c.1278T>C MANE Select | NP_000268.1:p.Asn426= | |
| NM_001354304.2:c.1278T>C | NP_001341233.1:p.Asn426= |