Linked Data
dbSNP Id:
rs774607211
ExAC:
10:96701973 A / C
gnomAD v2:
10-96701973-A-C
gnomAD v4:
10-94942216-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942216A>C , CM000672.2:g.94942216A>C | GRCh38 |
| NC_000010.10:g.96701973A>C , CM000672.1:g.96701973A>C | GRCh37 |
| NC_000010.9:g.96691963A>C | NCBI36 |
| NG_008385.1:g.8559A>C | |
| NG_008385.2:g.9059A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.356A>C MANE Select | ENSP00000260682.6:p.Lys119Thr | |
| ENST00000643112.1:c.356A>C | ENSP00000496202.1:p.Lys119Thr | |
| ENST00000645207.1:n.509A>C | ||
| ENST00000260682.6:c.356A>C | ENSP00000260682.6:p.Lys119Thr | |
| ENST00000461906.1:n.381A>C | ||
| ENST00000473496.1:n.127A>C | ||
| NM_000771.3:c.356A>C | NP_000762.2:p.Lys119Thr | |
| NM_000771.4:c.356A>C MANE Select | NP_000762.2:p.Lys119Thr |