Linked Data
ClinVar Variation Id:
2108202
ClinVar RCV Id:
RCV003034049
dbSNP Id:
rs760310248
ExAC:
17:61555449 A / C
gnomAD v2:
17-61555449-A-C
gnomAD v3:
17-63478088-A-C
gnomAD v4:
17-63478088-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63478088A>C , CM000679.2:g.63478088A>C | GRCh38 |
| NC_000017.10:g.61555449A>C , CM000679.1:g.61555449A>C | GRCh37 |
| NC_000017.9:g.58909181A>C | NCBI36 |
| NG_011648.1:g.6016A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.407A>C MANE Select | ENSP00000290866.4:p.Lys136Thr | |
| ENST00000290866.9:c.407A>C | ENSP00000290866.4:p.Lys136Thr | |
| ENST00000428043.5:c.407A>C | ENSP00000397593.2:p.Lys136Thr | |
| ENST00000579462.1:n.432A>C | ||
| ENST00000580318.1:n.596A>C | ||
| ENST00000582627.1:c.407A>C | ENSP00000462280.1:p.Lys136Thr | |
| ENST00000582678.5:c.407A>C | ENSP00000462995.1:p.Lys136Thr | |
| ENST00000583336.5:n.441A>C | ||
| ENST00000584529.5:n.441A>C | ||
| NM_000789.3:c.407A>C | NP_000780.1:p.Lys136Thr | |
| XM_005257110.1:c.-49A>C | XP_005257167.1:n.-49A>C | |
| NM_000789.4:c.407A>C MANE Select | NP_000780.1:p.Lys136Thr | |
| NM_001382700.1:c.172A>C | NP_001369629.1:p.Ser58Arg | |
| NM_001382701.1:c.-208A>C | NP_001369630.1:n.-208A>C |