Linked Data
ClinVar Variation Id:
295448
dbSNP Id:
rs774473277
ExAC:
1:216595553 G / A
gnomAD v2:
1-216595553-G-A
gnomAD v3:
1-216422211-G-A
gnomAD v4:
1-216422211-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216422211G>A , CM000663.2:g.216422211G>A | GRCh38 |
| NC_000001.10:g.216595553G>A , CM000663.1:g.216595553G>A | GRCh37 |
| NC_000001.9:g.214662176G>A | NCBI36 |
| NG_009497.1:g.6186C>T | |
| NG_009497.2:g.6238C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.126C>T MANE Select | ENSP00000305941.3:p.Asn42= | |
| ENST00000674083.1:c.126C>T | ENSP00000501296.1:p.Asn42= | |
| ENST00000307340.7:c.126C>T | ENSP00000305941.3:p.Asn42= | |
| ENST00000366942.3:c.126C>T | ENSP00000355909.3:p.Asn42= | |
| NM_007123.5:c.126C>T | NP_009054.5:p.Asn42= | |
| NM_206933.2:c.126C>T | NP_996816.2:p.Asn42= | |
| NM_206933.3:c.126C>T | NP_996816.2:p.Asn42= | |
| NM_007123.6:c.126C>T | NP_009054.6:p.Asn42= | |
| NM_206933.4:c.126C>T MANE Select | NP_996816.3:p.Asn42= |