Linked Data
dbSNP Id:
rs57505750
ExAC:
10:96740958 T / C
gnomAD v2:
10-96740958-T-C
gnomAD v3:
10-94981201-T-C
gnomAD v4:
10-94981201-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981201T>C , CM000672.2:g.94981201T>C | GRCh38 |
| NC_000010.10:g.96740958T>C , CM000672.1:g.96740958T>C | GRCh37 |
| NC_000010.9:g.96730948T>C | NCBI36 |
| NG_008385.1:g.47544T>C | |
| NG_008385.2:g.48044T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.980T>C MANE Select | ENSP00000260682.6:p.Ile327Thr | |
| ENST00000643112.1:c.838T>C | ENSP00000496202.1:p.Leu280= | |
| ENST00000260682.6:c.980T>C | ENSP00000260682.6:p.Ile327Thr | |
| NM_000771.3:c.980T>C | NP_000762.2:p.Ile327Thr | |
| NM_000771.4:c.980T>C MANE Select | NP_000762.2:p.Ile327Thr |