Linked Data
ClinVar Variation Id:
470215
ClinVar RCV Id:
RCV000549390
dbSNP Id:
rs1554201017
gnomAD v4:
6-121447236-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447236T>C , CM000668.2:g.121447236T>C | GRCh38 |
| NC_000006.11:g.121768382T>C , CM000668.1:g.121768382T>C | GRCh37 |
| NC_000006.10:g.121810081T>C | NCBI36 |
| NG_008308.1:g.16638T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.389T>C MANE Select | ENSP00000282561.3:p.Ile130Thr | |
| ENST00000647564.1:c.389T>C | ENSP00000497565.1:p.Ile130Thr | |
| ENST00000649003.1:c.389T>C | ENSP00000497283.1:p.Ile130Thr | |
| ENST00000650427.1:c.389T>C | ENSP00000497367.1:p.Ile130Thr | |
| ENST00000282561.3:c.389T>C | ENSP00000282561.3:p.Ile130Thr | |
| NM_000165.4:c.389T>C | NP_000156.1:p.Ile130Thr | |
| NM_000165.5:c.389T>C MANE Select | NP_000156.1:p.Ile130Thr |