Linked Data
dbSNP Id:
rs1054453493
gnomAD v2:
10-96748688-A-C
gnomAD v3:
10-94988931-A-C
gnomAD v4:
10-94988931-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988931A>C , CM000672.2:g.94988931A>C | GRCh38 |
| NC_000010.10:g.96748688A>C , CM000672.1:g.96748688A>C | GRCh37 |
| NC_000010.9:g.96738678A>C | NCBI36 |
| NG_008385.1:g.55274A>C | |
| NG_008385.2:g.55774A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.1376A>C MANE Select | ENSP00000260682.6:p.Lys459Thr | |
| ENST00000643112.1:c.*385A>C | ENSP00000496202.1:n.*385A>C | |
| ENST00000260682.6:c.1376A>C | ENSP00000260682.6:p.Lys459Thr | |
| NM_000771.3:c.1376A>C | NP_000762.2:p.Lys459Thr | |
| NM_000771.4:c.1376A>C MANE Select | NP_000762.2:p.Lys459Thr |