Linked Data
dbSNP Id:
rs777289128
gnomAD v2:
12-72388276-T-C
gnomAD v3:
12-71994496-T-C
gnomAD v4:
12-71994496-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71994496T>C , CM000674.2:g.71994496T>C | GRCh38 |
| NC_000012.11:g.72388276T>C , CM000674.1:g.72388276T>C | GRCh37 |
| NC_000012.10:g.70674543T>C | NCBI36 |
| NG_008279.1:g.60651T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333850.4:c.999T>C MANE Select | ENSP00000329093.3:p.Ala333= | |
| ENST00000333850.3:c.999T>C | ENSP00000329093.3:p.Ala333= | |
| NM_173353.3:c.999T>C | NP_775489.2:p.Ala333= | |
| XM_011537899.1:c.405T>C | XP_011536201.1:p.Ala135= | |
| NM_173353.4:c.999T>C MANE Select | NP_775489.2:p.Ala333= |