Linked Data
ClinVar Variation Id:
183288
dbSNP Id:
rs730882205
gnomAD v4:
19-42224882-A-C
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42224882A>C , CM000681.2:g.42224882A>C | GRCh38 |
| NC_000019.9:g.42729034A>C , CM000681.1:g.42729034A>C | GRCh37 |
| NC_000019.8:g.47420874A>C | NCBI36 |
| NG_053183.1:g.9612A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710326.1:c.479A>C | ENSP00000518206.1:p.Lys160Thr | |
| ENST00000301215.8:c.479A>C MANE Select | ENSP00000301215.2:p.Lys160Thr | |
| ENST00000678490.1:c.93+7175T>G | ||
| ENST00000301215.7:c.479A>C | ENSP00000301215.2:p.Lys160Thr | |
| NM_001314033.1:c.479A>C | NP_001300962.1:p.Lys160Thr | |
| NM_133444.1:c.479A>C | NP_597701.1:p.Lys160Thr | |
| NM_133444.2:c.479A>C | NP_597701.1:p.Lys160Thr | |
| NM_001314033.2:c.479A>C | NP_001300962.1:p.Lys160Thr | |
| NM_001314033.3:c.479A>C | NP_001300962.1:p.Lys160Thr | |
| NM_133444.3:c.479A>C MANE Select | NP_597701.1:p.Lys160Thr |