Linked Data
ClinVar Variation Id:
15825
ClinVar RCV Id:
RCV000017168
dbSNP Id:
rs34849179
gnomAD v4:
16-177401-A-C
PubMed:
PMID:6188720
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177401A>C , CM000678.2:g.177401A>C | GRCh38 |
| NC_000016.9:g.227400A>C , CM000678.1:g.227400A>C | GRCh37 |
| NC_000016.8:g.167400A>C | NCBI36 |
| NG_000006.1:g.38264A>C | |
| NG_059186.1:g.5751A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.419A>C MANE Select | ENSP00000322421.5:p.Lys140Thr | |
| ENST00000397797.1:c.323A>C | ENSP00000380899.1:p.Lys108Thr | |
| ENST00000472694.1:n.555A>C | ||
| NM_000558.4:c.419A>C | NP_000549.1:p.Lys140Thr | |
| NM_000558.5:c.419A>C MANE Select | NP_000549.1:p.Lys140Thr |