Linked Data
dbSNP Id:
rs772911473
ExAC:
1:17672558 C / A
gnomAD v2:
1-17672558-C-A
gnomAD v3:
1-17346063-C-A
gnomAD v4:
1-17346063-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17346063C>A , CM000663.2:g.17346063C>A | GRCh38 |
| NC_000001.10:g.17672558C>A , CM000663.1:g.17672558C>A | GRCh37 |
| NC_000001.9:g.17545145C>A | NCBI36 |
| NG_023261.2:g.42874C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.971C>A MANE Select | ENSP00000364597.4:p.Thr324Asn | |
| ENST00000468945.1:n.30C>A | ||
| NM_012387.2:c.971C>A | NP_036519.2:p.Thr324Asn | |
| XM_011541150.1:c.785C>A | XP_011539452.1:p.Thr262Asn | |
| XM_011541151.1:c.971C>A | XP_011539453.1:p.Thr324Asn | |
| XM_011541152.1:c.434C>A | XP_011539454.1:p.Thr145Asn | |
| XM_011541153.1:c.971C>A | XP_011539455.1:p.Thr324Asn | |
| XM_011541154.1:c.971C>A | XP_011539456.1:p.Thr324Asn | |
| XM_011541155.1:c.971C>A | XP_011539457.1:p.Thr324Asn | |
| XM_011541156.1:c.971C>A | XP_011539458.1:p.Thr324Asn | |
| XM_011541157.1:c.80C>A | XP_011539459.1:p.Thr27Asn | |
| XM_011541154.2:c.971C>A | XP_011539456.1:p.Thr324Asn | |
| NM_012387.3:c.971C>A MANE Select | NP_036519.2:p.Thr324Asn |