Linked Data
ClinVar Variation Id:
13596
ClinVar RCV Id:
RCV000014566
dbSNP Id:
rs121908249
gnomAD v3:
6-131890435-A-C
gnomAD v4:
6-131890435-A-C
PubMed:
PMID:20137772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890435A>C , CM000668.2:g.131890435A>C | GRCh38 |
| NC_000006.11:g.132211575A>C , CM000668.1:g.132211575A>C | GRCh37 |
| NC_000006.10:g.132253268A>C | NCBI36 |
| NG_008206.1:g.87420A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1133A>C | ||
| ENST00000647893.1:c.2702A>C MANE Select | ENSP00000498074.1:p.Tyr901Ser | |
| ENST00000360971.6:c.2702A>C | ENSP00000354238.2:p.Tyr901Ser | |
| ENST00000513998.5:c.*1539A>C | ENSP00000422424.1:n.*1539A>C | |
| NM_006208.2:c.2702A>C | NP_006199.2:p.Tyr901Ser | |
| XM_011535896.1:c.1592A>C | XP_011534198.1:p.Tyr531Ser | |
| NM_006208.3:c.2702A>C MANE Select | NP_006199.2:p.Tyr901Ser |